Baby Girl Research Articles

007. Distal Ileal Atresia and Total Colon Agenesis with Anorectal Malformation: A Case Report

Background: Atresia of the distal ileum and colon agenesis are rare conditions and can be the cause of obstructive symptoms. Case: A 1 day old baby girl complained of no anus since birth. The patient has no bowel movements or vomiting. The patient's stomach appears increasingly bloated. On physical examination of the abdomen revealed distension accompanied by difficult to hear bowel sounds. There was no anus or fistula in the patient but there is a dimple in the anus. Another abnormality found in the patient was the presence of CTEV on both of the patient's legs. The patient was planned for exploratory laparotomy and colostomy surgery. the length of the jejunum and ileum proximal to the ligament of Treitz was found to be 50 cm. The distal ileum, caecum, colon, rectum and anus were not found. An ileostomy was performed on this patient. The patient died 13 hours after surgery. Conclusion: Total colonic agenesis is a rare case and usually occurs with other congenital abnormalities. Early diagnosis and appropriate initial treatment are very important in this case. colonic agenesis causes congenital short bowel (CSB). CSB causes malabsorption due to inadequate intestinal length, which interferes with absorption. Staged surgery is a good option in the management of total colonic agenesis.

7019 Persistently Elevated Estradiol Levels in a Transgender Male; An Unexpected Pregnancy

Abstract Disclosure: M. Kanin: None. S. Grock: None. N. Agrawal: None. Background: Testosterone is the backbone of gender-affirming hormone therapy (GAHT) for transmasculine and non-binary individuals assigned female at birth (AFAB). While testosterone can affect fertility, it should not be used as contraception and is contraindicated in pregnancy. It is important to counsel patients on fertility preservation, pregnancy, and contraceptive options prior to testosterone initiation. However, the Endocrine Society Guidelines and World Professional Association for Transgender Health Standards of Care provide minimal guidance on reproductive health and contraceptive options. Case Description: An 18-year-old individual AFAB on GAHT with testosterone was referred to endocrinology for elevated estradiol levels. On presentation, the patient denied vaginal bleeding or breast tenderness. The date of last menstrual period was reported as two years prior. There was no significant past medical or surgical history. Medications included subcutaneous testosterone cypionate 20 mg weekly. Physical exam was notable for elevated BMI 42.6kg/m², mild facial hair and central adiposity. Hormone analysis revealed testosterone of 172 ng/dL (adult male: 200-1000) and estradiol 27,322 pg/mL (mid-cycle Female: 80-400). Estradiol by mass spectrometry obtained due to concern for immunoassay interference resulted at > 10,000 pg/mL. FSH <0.1 mIU/mL, LH<0.1 mIU/mL, DHEA-S 2,460 ng/mL (adult female: 400-3600), androstenedione 1.85 ng/mL (0.260 - 2.140), prolactin 328 ng/mL (3 -23.1). CT abdomen and pelvis and pituitary MRI were ordered to assess for ovarian, adrenal and/or pituitary tumor. Later that day additional laboratory tests revealed alpha fetoprotein 126 ng/mL (0 -6.7), progesterone 100.2 ng/mL (luteal phase: 3.0-25.0), beta-hCG 32,571 mIU/ml, inhibin B<10, inhibin A 500.1pg/ml (luteal phase: 40-80) and CA-125 19 U/mL (0 - 35). Given the elevated beta-hcg the patient was asked if they were having sex in a way that could result in pregnancy to which they answered affirmatively. CT and MRI were cancelled, and abdominal ultrasound was obtained which revealed a single living intrauterine pregnancy with estimated gestational age 35 weeks 2 days. Testosterone was stopped and they subsequently delivered a healthy baby girl. Conclusion: Gender diverse patients on testosterone can experience unplanned pregnancy. As testosterone is contraindicated in pregnancy, counseling on reproductive health and contraception is needed. A pregnancy test should be considered prior to initiating hormones for appropriate individuals. It is important to be aware that Individuals AFAB may not desire estrogen containing birth control and placement of intrauterine devices can be dysphoric. Further investigation into how contraceptive options may affect outcomes for individuals on GAHT is needed to minimize barriers to care and to enable patients to make well informed decisions. Presentation: 6/2/2024

7019 Persistently Elevated Estradiol Levels in a Transgender Male; An Unexpected Pregnancy

Abstract Disclosure: M. Kanin: None. S. Grock: None. N. Agrawal: None. Background: Testosterone is the backbone of gender-affirming hormone therapy (GAHT) for transmasculine and non-binary individuals assigned female at birth (AFAB). While testosterone can affect fertility, it should not be used as contraception and is contraindicated in pregnancy. It is important to counsel patients on fertility preservation, pregnancy, and contraceptive options prior to testosterone initiation. However, the Endocrine Society Guidelines and World Professional Association for Transgender Health Standards of Care provide minimal guidance on reproductive health and contraceptive options. Case Description: An 18-year-old individual AFAB on GAHT with testosterone was referred to endocrinology for elevated estradiol levels. On presentation, the patient denied vaginal bleeding or breast tenderness. The date of last menstrual period was reported as two years prior. There was no significant past medical or surgical history. Medications included subcutaneous testosterone cypionate 20 mg weekly. Physical exam was notable for elevated BMI 42.6kg/m², mild facial hair and central adiposity. Hormone analysis revealed testosterone of 172 ng/dL (adult male: 200-1000) and estradiol 27,322 pg/mL (mid-cycle Female: 80-400). Estradiol by mass spectrometry obtained due to concern for immunoassay interference resulted at > 10,000 pg/mL. FSH <0.1 mIU/mL, LH<0.1 mIU/mL, DHEA-S 2,460 ng/mL (adult female: 400-3600), androstenedione 1.85 ng/mL (0.260 - 2.140), prolactin 328 ng/mL (3 -23.1). CT abdomen and pelvis and pituitary MRI were ordered to assess for ovarian, adrenal and/or pituitary tumor. Later that day additional laboratory tests revealed alpha fetoprotein 126 ng/mL (0 -6.7), progesterone 100.2 ng/mL (luteal phase: 3.0-25.0), beta-hCG 32,571 mIU/ml, inhibin B<10, inhibin A 500.1pg/ml (luteal phase: 40-80) and CA-125 19 U/mL (0 - 35). Given the elevated beta-hcg the patient was asked if they were having sex in a way that could result in pregnancy to which they answered affirmatively. CT and MRI were cancelled, and abdominal ultrasound was obtained which revealed a single living intrauterine pregnancy with estimated gestational age 35 weeks 2 days. Testosterone was stopped and they subsequently delivered a healthy baby girl. Conclusion: Gender diverse patients on testosterone can experience unplanned pregnancy. As testosterone is contraindicated in pregnancy, counseling on reproductive health and contraception is needed. A pregnancy test should be considered prior to initiating hormones for appropriate individuals. It is important to be aware that Individuals AFAB may not desire estrogen containing birth control and placement of intrauterine devices can be dysphoric. Further investigation into how contraceptive options may affect outcomes for individuals on GAHT is needed to minimize barriers to care and to enable patients to make well informed decisions. Presentation: 6/2/2024

Family creation by combined use of ART and surrogacy in a transgender couple: a unique case report

In 2014 a 36-year-old healthy female-to-male transgender patient attended the London Women's Clinic to consider oocyte and embryo freezing before sex reassignment surgery. The patient began IVF treatment in 2015; from two cycles nine MII oocytes and five blastocysts were frozen. Three years later the patient returned with his partner, a 39-year-old healthy transgender male-to-female, ready to start a family with surrogacy treatment. The surrogate delivered a healthy baby girl born at term in 2021 via Caesarean section, with a second successfully delivered in 2022. To our knowledge this is the first case report of successful family creation in which both partners are transgender.

Severe novel coronavirus infection in late pregnancy: a case report.

This study reported the diagnosis, treatment and perinatal outcome of a novel coronavirus infection patient at 29+6 weeks pregnancy. The patient case came to the hospital with persistent fever and cough for 6 days. Patient's chest CT diagnosis showed double pneumonia, and viral infection was considered. Blood gas analysis revealed type I respiratory failure, and a throat swab nucleic acid test confirmed the novel coronavirus infection (critical type). After 13 days of isolation and supportive treatment, the patient recovered and was discharged from hospital after two consecutive negative nucleic acid tests. After discharge, the patient delivered a baby girl successfully by cesarean section on March 16, 2023. The newborn weighing 2050 g, with an Apgar score of 9-10 points /1-5 minutes. The newborn was transferred to the neonatology department for hospitalization and discharged 10 days later. The patient and her baby were followed up for nearly 1 year. Both mother and daughter were in good health.

Leukomoid Reaction and Partial Exchange in an Infant with Pertussis

Introduction: Leukemoid reactions resulting from infections other than leukemia can present with serious clinical conditions. Pertussis infection, particularly before vaccination, can lead to severe pneumonia and may trigger a leukemoid reaction. This case is presented to highlight the relationship between severe pneumonia and leukemoid reaction in pertussis. Case Presentation: A 41-day-old baby girl, who had not yet been vaccinated against pertussis, was hospitalized in the pediatric intensive care unit with a diagnosis of severe pneumonia due to pertussis infection and required mechanical ventilation. A pronounced leukemoid reaction (144,000 cells/μL) was observed. Despite hydration and supportive treatment, a partial exchange was performed due to the elevated white blood cell count. Although there was partial improvement in the white blood cell count, the patient passed away on the 11th day of follow-up. Conclusions: There is a need for further case reports to determine the appropriate timing for initiating partial exchange treatment and the number of cycles required.

Pre-term Familial Exudative Vitreoretinopathy: A Novel Nonsense LRP5 Mutation.

This case report details the diagnosis and management of a pre-term infant with aggressive bilateral retinal pathology. A 4-week-old preterm baby girl, born at 28 weeks and 6 days to consanguineous parents, was referred for suspected aggressive posterior retinopathy of prematurity (ROP). She had a family history of bilateral retinal detachments and intellectual disability in an older sister. Clinical assessment included retinal examination, fluorescein angiography, optical coherence tomography, dual-energy X-ray absorptiometry (DEXA), and genetic testing. The genetic testing involved sequence analysis and copy number variation analysis of 25 genes related to vitreoretinopathy. Retinal examination and fluorescein angiography revealed extensive non-perfusion and telangiectatic vessels in both eyes, and a macula-involving tractional retinal detachment in the left eye. Despite treatment with intravitreal bevacizumab and laser photocoagulation, they progressed to total retinal detachment and no light perception in both eyes. Genetic testing revealed a pathogenic homozygous nonsense mutation in the LRP5 gene (c.3259C>T, p.(Gln1087*)), a mutation not previously reported in association with familial exudative vitreoretinopathy (FEVR). At 10 months of age, DEXA demonstrated normal bone density, diverging from the typical presentation of osteoporosis pseudoglioma syndrome associated with LRP5 mutations. This case describes a novel mutation in a complex retinal disease and underscores the necessity of considering pre-term FEVR in the differential diagnosis of atypical or aggressive ROP in preterm infants. The overlap in clinical features between ROP and FEVR highlights the complexity of diagnosis and management and the importance of genetic testing in preterm infants with retinal vascular abnormalities.

New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.

Major Histocompatibility Complex Class II Deficiency is a rare primary immunodeficiency disease with autosomal recessive inheritance. It is characterized by the absence of Major Histocompatibility Complex Class II molecules on the surface of immune cells. In this article, we will present a four-month-old baby girl who presented with recurrent fever and progressive exacerbation of respiratory symptoms since a month ago. Relevant examinations suggested pancytopenia, a decrease in CD4 and CD3 ratio, and CD4/CD8 inversion, hypogammaglobulinemia, and diagnosis of hemophagocytic syndrome during treatment which all led to the consideration of the presence of immunodeficiency diseases, and the diagnosis of Major Histocompatibility Complex Class II Deficiency was made by peripheral blood whole-exon sequencing (WES). This case is remarkable in that it reveals features of hemophagocytic syndrome in a Major Histocompatibility Complex Class II Deficiency infant, most probably caused by cytomegalovirus, which rarely reported before, and the Major Histocompatibility Complex Class II Deficiency caused by a novel mutation site in the RFXANK gene which never reported, and it also describes the diagnostic and therapeutic course in detail. In addition, we have summarized the information related to Major Histocompatibility Complex Class II Deficiency triggered by mutations in the RFXANK gene to assist clinicians in early recognition and diagnosis.

First successful ovarian cortex allotransplant to a Turner syndrome patient requiring immunosuppression: wide implications

ObjectiveTo determine whether we can safely and successfully transplant an ovary tissue allograft from a non-identical donor to her Turner syndrome sister. DesignTransplantation of cryopreserved ovary tissue, as well as fresh transplantation of ovarian tissue between identical twins, is now well established with numerous reported successful cases. However there have not yet been any ovary transplants between non-identical women requiring immunosuppression (ovary allotransplant). This could be a much more common indication for ovary tissue transplantation if safe and reliable immunosuppression were available. SubjectsA 20 year old amenorrheic woman with non-mosaic 45-XO Turner syndrome requested ovary tissue transplantation from her fertile 22 year old 46-XX sister. They were an HLA match but were ABO incompatible, a well known contra-indication to solid tissue or organ transplantation. The Turner syndrome sister strongly preferred to be able to become pregnant naturally without donor egg IVF, and to avoid HRT (hormone replacement therapy). In her religious group, that would also be important for finding a marital match. Despite the poor prognosis associated with ABO incompatibility, an ovary from her 22 year old non-identical fertile sister was transplanted to her employing the immunosuppression protocol now used for kidney transplant patients in our centers at Washington University and Johns Hopkins. Main Outcome MeasuresPost-operatively at 5 months she developed normal monthly menstrual ovarian function, and she became spontaneously pregnant with a normal baby girl. The relation between her post-op FSH and AMH levels continues to support the theory that tissue pressure controls primordial follicle recruitment. The fact that ABO incompatibility did not prevent success suggests that diffusion and not revascularization may be all that is required for successful long term ovarian cortex transplant survival with spontaneous pregnancy. ResultsOvary allotransplantation with safe immunosuppression allows natural conception, and also normal hormone function obviates the need for HRT. Orthotopic placement of the graft and surgical technique is critical for natural conception and a higher pregnancy rate. ConclusionAllotransplantation requiring safe immunosuppression, if successful, may be a much more commonly used indication for ovary transplantation in the future than frozen ovary grafts or grafts between identical twins.

MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report

BackgroundWith recent advances in gene sequencing technology, more than 60 genetic mutations associated with very early onset inflammatory bowel disease (VEO-IBD) have been reported. Most of the genes are associated with immune deficiencies. The Myosin 5B (MYO5B) gene is primarily involved in cell motility and material transport which is associated with congenital intractable diarrhea and cholestasis. No studies have examined the relationship between the MYO5B gene and VEO-IBD. We report a case of a child with a mutation in the MYO5B gene who was diagnosed with VEO-IBD, then we investigated the association between the MYO5B gene and VEO-IBD.Case presentationA 7-month-old baby girl with a chief complaint of “blood in the stool for more than 4 months and vaginal pus and blood discharge for 3 weeks” was diagnosed with VEO-IBD, and her symptoms improved after treatment with mesalazine. The whole-exome sequencing was performed with peripheral blood. Immunohistochemistry was performed on the terminal ileal tissue. Western blotting, quantitative polymerase chain reaction (Q-PCR) and immunofluorescence were performed with cultured organoid tissue from the terminal ileum. Whole-exome sequencing identified heterozygous missense of MYO5B variant of unknown significance (p. [I769N]; [T1546M]). Immunohistochemistry revealed a significant decrease in the expression of MYO5B protein in the terminal ileum of the child with MYO5B mutation; Q-PCR revealed a decrease in the mRNA levels of occludin and ZO-1 and both the mRNA levels and protein levels of MYO5B was downregulated in the patient. Immunofluorescence images showed that MYO5B gene mutation disrupted the apical delivery of transporters SGLT1, NHE3 and AQP7.ConclusionsMYO5B gene mutation leading to the downregulation of MYO5B protein may promote the occurrence of VEO-IBD by decreasing mRNA and protein levels of intestinal tight junction genes and dislocating the apical transporters.

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic-dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended.

Congenital cervical teratoma

: Teratoma, originating from the Greek word "teras" meaning "monster," reflects its diverse tissue composition, often containing ectodermal, mesodermal, and endodermal tissues. These embryonic germ layers contribute to the rarity of teratomas in the neck, though they are more commonly found in the sacrococcygeal area. Notably, teratomas occurring in the cervical region can lead to life-threatening symptoms due to their mass effect.: A 26-year-old multiparous woman highlighted the challenges of managing cervical teratomas. During her 38th week of gestation, an ultrasound revealed a tumour on the foetus's neck, measuring 5.2 x 4.7 cm with doppler, neovascularization, and solid parts suspected to be a teratoma. The patient, despite no prior illness, had not taken prescribed vitamins during pregnancy. She underwent a caesarean section, delivering a baby girl weighing 3100 grams with an Apgar score of 8, who was found to have a solid mass in the posterior neck. The baby underwent surgery three days later, where 200-gram mass was removed and identified as a mature teratoma through anatomical pathology examination. The successful surgery allowed the mother and baby to return home in good condition.: Teratomas emphasized their diverse nature, with cervical teratomas mostly affecting females and originating from early aberrant germ cells. These tumours, often neuroepithelial, rarely become malignant. Diagnosis involves prenatal ultrasonography, aiding in intervention planning, while postnatal imaging guides surgical approaches.: Congenital teratomas pose challenges in prenatal diagnosis and management, requiring a multidisciplinary approach. Early detection through antenatal imaging, surgical excision, and meticulous follow-up are crucial for optimal outcomes, emphasizing the importance of comprehensive care and collaboration across medical specialties.

About a person with a missing limb and a clubfoot in one of their legs (congenital talipes equinovarus, or CTEV)

The Ponseti technique has a higher success rate than any other method now used in physiotherapy practice for the treatment of congenital talipes equinovarus or clubfoot. The study’s objective was to discover proof that using the Ponseti approach for clubfoot challenging functional results and missing limb by prosthetic shoes. A baby girl who was 1 month and 6 days old and had no prior history of complications for either her mother or herself visited Centre for the Rehabilitation of the Paralysed (CRP). We identified her as having unilateral normal clubfeet (left) and missing limb in right, and throughout the casting process, her midfoot scored higher than her hindfoot. On the first casting day, feet had a total Pirani score (PS) of 5.5. Total casting was necessary, and the right feet’s PSs were 1.5 and 1, respectively. Just before the casting, she had manipulation (exercise therapy). After nine casting, Pirani’s score was zero. Afterward, the patient was given the brace and prosthetic in the 4 size. This study’s findings suggest that using the Ponseti approach yields comprehensive clinical and functional results and missing limb by prosthetic shoes.

Primigravida with Fetal Malpresentation and Bicornuate Uterus: A Case Report

Introduction: Malpresentation of the fetal head in left oblique presentation is a rare obstetric complication but has the potential to cause birth difficulties. This condition can be worsened by anatomical abnormalities of the uterus such as a bicornuate uterus. Case presentation: An 18-year-old primigravida presented with complaints of labor and premature rupture of membranes. Examination revealed malpresentation of the fetal head in left oblique presentation, and further ultrasound examination revealed a possible bicornuate uterus. Conclusion: Careful labor management and appropriate surgical intervention, in this case, an emergency caesarean section, resulted in the birth of a healthy baby girl. This case emphasizes the importance of early diagnosis and a multidisciplinary approach in treating complex cases of fetal malpresentation.

PATH-14. A CLINICAL CONUNDRUM - INFANTILE POSTERIOR FOSSA EPENDYMOMA WITH YAP1:MAML FUSION?

Abstract BACKGROUND Ependymomas of infancy (0-18months) have been reported to comprise distinct clinical, pathological and genetic entities. Young age is typically associated with posterior fossa group A (PF-A) tumours and therefore a poor prognosis. Treatment of these infants is challenging with limited therapeutic options that have significant long-term sequelae. METHOD We report a single case of a 4-month old baby girl who presented with obstructive hydrocephalus and a presumed posterior fossa mass. RESULTS Imaging demonstrated a large fairly well-defined solid lesion with multiple T1 high and corresponding T2 intermediate signal intensity foci scattered throughout the lesion and marked mass effect on the cerebellum and fourth ventricle. The lesion was inseparable from the pineal gland, habenula and tectum and only mild diffusion restriction. Whilst initially considered to be a posterior fossa tumour, the presence of a claw sign with the tectal plate, favoured a tectal origin. Histological appearances, together with immunohistochemistry findings (GFAP positive and EMA patchy perinuclear dot expression) were consistent with classic ependymoma. Grading was difficult as mitotic activity was relatively low, although focal areas of high ki67 proliferation index were noted suggesting at least focal grade 3 areas. Retained expression of tumour cells for H3K27me3 on immunohistochemistry suggested the likely posterior fossa group B (PF-B) ependymoma. Local SNP chromosome microarray found no acquired clonal abnormality; with no detection of gain chromosome 1q; loss/LOH 6q; Loss/LOH 9p21.3 [CDKN2A, CDKN2B], chromothripsis 11q [ZFTA::RELA], Loss/LOH 17p13 [TP53] or Loss/LOH 22q [NF2]. Additional NGS sequencing identified a YAP1::MAML2 fusion (confirmed with targeted RT-PCR followed by subsequent Sanger sequencing). CONCLUSION This case highlights the challenges with overlapping clinical, pathological and radiological features in an infant with ependymoma, necessitating a molecular diagnosis. After 21months, the patient remains in complete remission following surgery alone.

Transient Abnormal Myelopoiesis in Down Syndrome Patients

Neonates with Down Syndrome (DS) have a propensity to develop the unique myeloproliferative disorder, Transient Abnormal Myelopoiesis (TAM). Transient abnormal myelopoiesis usually resolves spontaneously in < 3 months, but approximately 10% of patients with TAM die from hepatic or multi-organ failure. After remission, 20% of patients with TAM progress into acute myeloid leukemia associated with down syndrome (ML-DS). The patient was a full-term 2-day-old baby girl with a birth weight of 3300 gr. Physical examination revealed dysmorphic facial features, hypertelorism, macroglossia, and low set ears, which is a characteristic sign of DS face, skin rash, and there was no anus. On examination of peripheral blood smears and bone marrow aspiration, hematological abnormalities, and circulating blast cells were found. Early diagnosis of low-lying anorectal malformation (MAR) without fistula and down syndrome. In treating patients with TAM, it is first necessary to know whether they have trisomy 21 syndrome, then trace the existing hematological disorders to find the GATA 1 genetic mutation. The most crucial hematological problem in patients with DS is leukemia. Mutations in the GATA 1 gene and the presence of DS can result in abnormal proliferation of megakaryocytes and erythroid progenitors in the fetus and hematological abnormalities in TAM. Transient abnormal myelopoiesis can be fatal in up to 10% of patients and resolves spontaneously. Therefore, laboratory examinations are very significant, including blood tests, peripheral blood smears, supporting examinations such as bone marrow aspiration, monitoring of clinical symptoms, and close monitoring of comorbidities. Examination repeat or follow-up bone marrow aspiration is required within six months of patient follow-up to reduce the risk of further complications. In this case, a follow-up examination is highly recommended because if there are no changes, the further examination must be carried out.

Sacrococcygeal Tumor – A Rare Case Report

Sacrococcygeal teratoma (SCT) is a rare congenital tumor primarily affecting infants, with a prevalence of approximately 1 in 35,000 live births. These tumors, often detected either prenatally or shortly after birth, originate from germ cells and typically occur at the base of the coccyx. Despite their benign nature, SCTs can pose significant risks to fetal and maternal health, necessitating careful management and monitoring. A 32-year-old primiparous woman presented to Siak Regional Hospital at 36 weeks of gestation with complaints of uterine contractions and bloody mucus discharge from the birth canal. A physical examination revealed a palpable mass in the uterine fundus and pubic symphysis. Ultrasonography confirmed the presence of a fetal SCT with a solid mass measuring 6.2 x 8.1 x 7.3 cm in the sacral region, and a cesarean section was performed. The infant, a baby girl, was born with a birth weight of 2150 grams and an Apgar score of 3/4. Congenital abnormalities were observed in the form of a solid mass around the sacrum, indicative of SCT. SCT poses challenges in prenatal diagnosis, management, and prognosis. Prompt recognition and multidisciplinary management are essential for optimizing outcomes. Further research is needed to enhance understanding and improve therapeutic strategies for this rare congenital anomaly. SCT is a rare congenital anomaly that requires early diagnosis. Thorough examination with ultrasonography is essential to rule out other congenital anomaly, and predict prognosis.

Congenital Unilateral Hearing Loss from Cochlear Nerve Canal Stenosis

A 2-month-old baby girl presented with a failed neonatal otoacoustic emission (OAE) hearing screening in the left ear. Combined Auditory Brainstem Response/Auditory Steady-State Response (ABR/ASSR) testing confirmed the presence of a unilateral left moderate to severe hearing loss. No Joint Committee on Infant Hearing (JCIH) risk factors for early childhood hearing loss1 were identified. She subsequently underwent computed tomography (CT) of the temporal bones to determine the presence of any inner ear malformation. No abnormalities of the internal auditory canal, cochlea, semicircular canals and ossicles were noted by the radiologist, and the study was officially reported as a “normal temporal bone CT scan.” Independent review of the CT imaging revealed the presence of a visually apparent disparity in the width of the cochlear nerve canals. (Figure 1) Measurement of the cochlear nerve canal width in the axial plane parallel to the infraorbitomeatal line2 using the length measurement tool in the DICOM imaging software (RadiAnt DICOM Viewer, Version 2024.1, Medixant) indicated a cochlear nerve canal width of 2.18 mm on the right and 1.02 mm on the left. (Figure 2) Applying the suggested cutoff point of 1.2 mm as described by Lin et al.,2 we identified the presence of left cochlear nerve canal stenosis as the etiology of the congenital unilateral hearing loss. The cochlear nerve canal, which has also been referred to as the bony canal for the cochlear nerve (BCNC), cochlear aperture, and cochlear fosette, is the bony transition point between the internal auditory canal and the cochlear modiolus. A relationship between a hypoplastic cochlear nerve canal and congenital sensorineural hearing loss was first suggested by Fatterpekar et al. in 2000.3 Subsequent studies confirmed the association between cochlear nerve canal stenosis and sensorineural hearing loss that ranges from near-normal to profound, with a statistically significant relationship between the degree of hearing loss and the degree of stenosis.4 Various cutoff points to define stenosis of the cochlear nerve canal have been identified in the medical literature. These cutoff points range from 1.2 mm to 1.7 mm when the canal width is measured in the axial plane.2 This particular case demonstrated clear-cut evidence of cochlear nerve canal stenosis, as it satisfied the smallest cutoff criteria (< 1.2 mm) seen in the medical literature. The identification of cochlear nerve canal stenosis as the cause of congenital sensorineural hearing loss is important not only from a diagnostic point, but also from a prognostic perspective. Cochlear nerve deficiency has been noted to be highly prevalent among pediatric patients with cochlear nerve canal stenosis,5 and this has significant negative implications in relation to rehabilitation with external hearing devices and cochlear implants.

The Psychology of Patients With Oral-Facial Clefts: A Review of Victor Hugo's The Man Who Laughs (L'homme qui rit).

In Victor Hugo's The Man Who Laughs, the protagonist has a facial cleft. The authors aimed to comprehend the psychological experience of a patient with a facial cleft by analyzing this novel. The novel concerns the life of a young nobleman, Gwynplaine, disfigured as a child, who travels with his protector and companion, the vagabond philosopher Ursus, and Dea, a baby girl he rescued. During the oppressive rule of the king, one of his adversaries was Lord Linnaeus Clancharlie, who had taken refuge in Switzerland. The tyrannical monarch ordered the execution of Gwynplaine's father and commissioned a surgeon, Dr Hardquannone, to carve the boy's face into a perpetual grin. The king declared that he should "laugh forever at his fool of a father." Subsequently, the king sold the boy to a group who specialized in the mutilation and disfigurement of children. On the psychology of a boy with an appearance giving the impression of laughing, Hugo wrote: "By laughing Gwynplaine made people laugh. However, he wasn't laughing. His face laughed, his thoughts did not." When Ursus met Gwynplaine, Ursus asked the boy: "What are you laughing at?" The boy replied: I'm not laughing. Ursus: Then you are terrible. Gwynplaine's unnatural laughter, which stems from an artificial deformation of the muscles, is a silent form of laughter. It represents the eternal laughter of those who do not truly laugh, signifying emotional emptiness and an accompanying sense of indifference. Plastic surgeons can restore an "unnatural laughing face" to a "natural smiling face."

Limits and pitfalls in a lethal infant cocaine intoxication

ABSTRACT The case concerns the first Italian report of a fatal cocaine intoxication in an 8-month-old baby girl found dead in the cradle by her parents at 6 am on a summer day. At arrival to the emergency department, the doctors declared the baby dead and the Prosecutor Office ordered an autopsy and toxicological analyses. Despite no history of cocaine use/abuse by both parents, toxicological analyses evidenced a positivity to cocaine in the post-mortem blood, brain and liver. The legal physician concluded for a fatal cocaine intoxication. A crucial aspect to the Court was to discriminate between administration (accidental or voluntary) and intake (almost accidentally), due to different legal consequences for parents (i.e. voluntary homicide or inadequate supervision). In the here presented case discriminating the exact intake was almost impossible in terms of certainty. Such difficulty mainly derived from lacks in the investigation activities in the first hours following the death. Among all possible intake routes, the ‘most probable’ was the accidental one, mostly attributable to a cradle contamination. A lack in the site inspection protocol could strongly affect the case solution making it impossible to offer the Court a definitive ‘scientific’ solution to the case (based on scientifically irrefutable data).