Baby Girl Research Articles

Smith-Kingsmore syndrome with nystagmus as the initial symptom

BackgroundSmith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few cases. The first case of SKS was reported in 2013. The incidence of SKS remains unknown. The clinical manifestations of SKS are diverse, and common features are macrocephaly, intellectual disability, and seizures. Some patients with SKS have special facial features.Case presentationThe case was a 5-month-old baby girl, who was admitted to the hospital for nystagmus, delayed development for 2 months, and intermittent convulsions for 2 days. The patient had a head circumference of 42 cm (+ 2SD), and showed facial deformity, low limb muscle tension, large areas of pigmentation, as well as mosaic patchy and strip-like pigment loss in her trunk and limbs. Meanwhile, her development was lagging behind peers. Physical examination did not reveal other abnormalities. She was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and signs. She successively received treatment with adrenocorticotropic hormone, methylprednisolone sodium succinate, topiramate, levetiracetam, and zonisamide to reduce the number of convulsions in a short time, but drug resistance appeared thereafter. After combined treatment with multiple antiseizure medications, the patient still had seizures, but the amplitude of limb movement during the seizures was reduced compared to that before treatment.ConclusionsThis case expanded the phenotypic spectrum of SKS for diagnosis. We also review the related literature to promote the awareness, diagnosis, clinical management, and follow-up of SKS patients with MTOR mutations.

SAT250 A Case Of Hypercalcemia In Pregnancy - A Diagnostic And Management Challenge

Abstract Disclosure: W. Cheng: None. Y. Kuan: None. Hypercalcemia in pregnancy is rare and poses significant diagnostic and management challenges especially in a low resource setting. Although primary hyperparathyroidism (PHPT) is the main cause, physiological changes in calcium homeostasis make it difficult to distinguish from familial hypocalciuric hypercalcemia (FHH) unless genetic testing is done. Furthermore uncertainty exists on the safety of pharmacotherapy for hypercalcemia in pregnancy which if untreated, can be detrimental to both mother and child. Described herein a 17 year-old primigravida who presented at 32 weeks of gestation for asthma exacerbation precipitated by COVID-19 infection. She was incidentally found to have PTH-dependent hypercalcemia with albumin-corrected calcium 3.42 mmol/L [2.10-2.55] associated with raised intact parathyroid hormone (iPTH) 15 pmol/L [1.6 - 6.0] and deficient serum 25OH Vitamin D at 19.95 nmol/L [50-125]. She was given IV saline of 3-3.5L/day but to no avail as her serum calcium was persistently above 3 mmol/L with an episode of premature uterine contraction. Calcitonin was given in short courses and withheld once albumin-corrected calcium dropped below 3 mmol/L but rebound within three days. As bisphosphonates is contraindicated in pregnancy, we introduced cinacalcet, up to 75mg/day after discussion with the patient and her family. Meanwhile, investigations were done to ascertain underlying cause. Fractional urine calcium excretion ranged from 0.0068 (spot urine sample) to 0.0568 (24-hour urine sample). Ultrasound neck did not reveal enlarged parathyroid glands or an adenoma. Sestamibi scan was contraindicated in pregnancy. Genetic testing for FHH was too costly but all her first-degree relatives tested to have normocalcemia. Blood pressure remained normal throughout pregnancy. She was discharged with cinacalcet at calcium level of 2.7 mmol/L. However she defaulted follow-up and medications and presented at 36 weeks of gestation for preterm labour. She gave birth to a healthy, 2.46kg baby girl. The baby had neonatal jaundice but normal calcium level. Postpartum, the patient was asymptomatic despite persistent hypercalcemia 3.12 - 3.15nmol/L. As she was non-compliant to cinacalcet it was stopped and serum calcium did not worsen. Sestamibi scan is planned after she stops breastfeeding and a reassessment of the urine calcium once vitamin D is adequately replenished. She refused exploratory parathyroidectomy. She continued to be followed up at the endocrine clinic while her baby at primary care. Contraception is advised untill definitive diagnosis and treatment of hypercalcemia. This case illustrates the challenges in managing hypercalcemia in pregnancy and difficulty in distinguishing PHPT vs FHH without genetic testing. Presentation: Saturday, June 17, 2023

From 6-wk Lungs to 6 y: Increasing the Donor Pool for Pediatric Lung Transplantation.

Lung transplantation in the pediatric population is a challenge. With the donor pool being so small and lungs from young donors rare and precious, every organ available needs to be utilized to its best potential. Here, we describe the case of a 6-wk-old donor of double lungs to a 5-mo-old baby girl diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins. The recipient is doing very well, 6 y after the transplant, now following normal growth. The challenges facing pediatric cardiothoracic transplantation in terms of organ supply and demand are enormous. In this article, we discuss some of the issues around the shortage of organs and alternatives to increase the organ donor pool.

Pregnancy Through Assisted Conception After Radical Trachelectomy: A Case Report

Introduction: Trachelectomy, a conservative surgery in the early stages of cervical cancer, allows young women to keep their fertility. Infertility after such a surgery is frequent, and many couples should opt for assisted reproduction. Objectives: This case report aims to present a successful pregnancy in a woman with a history of cervical cancer and complete removal of the uterine cervix through trachelectomy. Case Presentation: A successful pregnancy is described after two failed attempts of embryo transfer (ET) in a 32-year-old woman with a history of trachelectomy due to stage IA invasive squamous cell carcinoma of the cervix. Before and after radical trachelectomy, she received adjuvant chemotherapy. In her second course of in-vitro fertilization, after a mock transfer at the time of ovum pickup with 11 oocytes and 7-day 3 embryos, her third ET cycle under ultrasound guide was successful. During pregnancy, in the first-trimester screening, nuchal translucency was reported to be 4.5 mm. Therefore, chorionic villous sampling and comparative genomic hybridization CGH-Array were performed before preparing for abdominal cerclage at 14 weeks. Further screening tests were normal. Finally, she delivered a 2430 g healthy baby girl through cesarean section at 37 weeks. Conclusions: The mock transfer and ultrasound-guided ET are suggested for women with a history of trachelectomy.

Bicornuate uterus with recurrent miscarriage treated with Sitagliptin and PRP: A Case Report of a Successful Pregnancy

Research has shown that recurrent miscarriage can be due to loss of endometrial mesenchymal stem-like progenitor cells (eMSC) and excessive decidual senescence. Sitagliptin has been shown to increase eMSC in the endometrial tissue and decrease decidual senescence. Case This is a case report for a 31-year-old woman with a bicornuate uterus who suffered recurrent miscarriages with IVF treatment. IVF treatment was done due to male factor infertility in a modified stimulation protocol using oral clomifene and human menopausal gonadotrophin. A total of 10 blastocysts were cryopreserved. The couple could not afford to do a PGT-A testing on the cryopreserved embryos. Initial three frozen embryo transfers were done in a natural cycle but resulted in biochemical pregnancies. Thyroid function test and Anti-phospholipid Syndrome tests were negative. Her Protein C level was slightly low at 63%. Hysteroscopy showed no abnormalities in both the uterine horns. A fourth embryo transfer was done in a medicated cycle which resulted in no pregnancy. She was started on oral Sitagliptin 100mg once daily for 3 months. Following this, a fifth embryo transfer was done in a natural cycle. Endometrial PRP infusion was done in this cycle. She successfully became pregnant and delivered a baby girl via LSCS in August 2023. Conclusion Sitagliptin can be a cost-effective adjunct treatment for patients with recurrent miscarriage. While the absence of PGT-A may raise questions regarding the underlying cause of her recurrent miscarriages, oral Sitagliptin can be an option in cases of financial constraint or limited resources.

Challenges in the management of hyperinsulinemic hypoglycemia in a preterm neonate - A case report and literature review

Hyperinsulinemic hypoglycemia (HH) includes a diverse group of disorders characterized by dysregulated insulin secretion, exhibiting clinical, genetic, and morphological heterogeneity. It is associated with permanent brain damage. Hence, a timely diagnosis and prompt management are essential to safeguard against complications such as epilepsy, cerebral palsy, and neurodevelopmental deficits. We report the challenges faced in the management of HH in a preterm neonate. A baby girl was born to a G2A1 mother at 31 weeks of gestation due to preterm onset of labor with premature rupture of membranes. The baby had persistent and refractory hypoglycemia requiring oral and parenteral medications such as diazoxide, hydrochlorothiazide, hydrocortisone, nifedipine, glucagon infusion, and subcutaneous octreotide. Genetic testing unveiled a homozygous pathogenic mutation of the ABCC8 gene with autosomal recessive (AR) inheritance. As the AR inheritance always presents with diffuse lesions, a 18F-fluoro-dihydroxyphenylalanine positron emission computed tomography (18F-DOPA PET) scan was not done to differentiate focal and diffuse lesions. The baby underwent laparoscopic near-total pancreatectomy and was discharged on subcutaneous octreotide. Continuous intravenous glucagon infusion may help reduce the infusion rate of glucose needed to maintain normoglycemia. Diazoxide unresponsiveness in a baby with HH needs genetic studies. AR inheritance always presents as diffuse lesions. Hence, an 18F-DOPA PET scan can be deferred to differentiate the diffuse and focal forms.

Klippel–Trenaunay–Weber Syndrome—Case Report: Diagnostic Role of Fetal Autopsy and Histopathology

Abstract Objectives The aim of this study was to evaluate a case of Klippel–Trenaunay–Weber Syndrome (KTWS) diagnosed at 15 weeks of gestation. Materials and Methods A 30-year-old G4P1L1A2 at 15 weeks gestation was detected with abnormal fetal right lower limb thickness and hypervascularity in both thighs. Multiseptated hypoechoic areas were detected involving skin and subcutaneous tissue of the left shoulder region, axilla, chest wall, and lower back region posteriorly extending into both lower limbs associated with cortical thickening of long bones of the lower limb. Significant subcutaneous thickening was present in the right foot along with a slow flow vascular malformation. The couple did not opt for any prenatal testing and continued the pregnancy. Results The patient received routine antenatal care and at 27 weeks of gestation there was polyhydramnios with fetal demise. She delivered a macerated stillborn baby girl weighing 2.5 kg (>99th centile). Consent was obtained for external autopsy, fetal photographs, and tissue biopsy. The fetus was grossly macerated. The skin was hypertrophied and subcutaneous tissue along with bluish discoloration was present over the affected areas. Histopathology of fetal thigh tissue was suggestive of arteriovenous malformation compatible with a diagnosis of KTWS. Conclusions KTWS has unique sonographic features. Confirmation can be done by clinical exome sequencing of amniotic fluid or fetal tissue.

A Rare Case of Transverse Myelitis During Pregnancy, In A 23-Year-Old Female in A Resource-Limited Setup

Background: Transverse myelitis(TM) is a rare, acquiredneuro-immune spinal cord disorder that can present with the rapid onset of weakness, sensory alterations, and bowel or bladder dysfunction. Case presentation: We report a case of 23- a year- old woman, gravid two, para zero with one previous abortion, at a gestation age of 38 weeks and five days presented to the obstetric emergency of our hospital with complaints of neck pain for two days and weakness of upper limb and lower limb and inability to walk for one day with no history of trauma. She was delivered by emergency cesarean section due to fetal bradycardia (fetal heart tone ranging from 107 to 115 beats per minute) which was confirmed by a cardiotophographic machine. The caesarian section went well, where the alive baby girl with Apgar scores of six and ten in one and five minutes respectively, and her birth weight of 3.4 kilograms (kg) followed by postoperative order with the uncomplicated postpartum period. During treatment, magnetic resonance imaging (MRI) of the spine was done and a diagnosis of TM was made. She was managed with parenteral steroids and physiotherapy. She was later discharged from our hospital in good health plus an uneventful postnatal follow-up. We present this case as a rare diagnosis to our facility with successful management during pregnancy and the possibility of recovery in a resource-limited setup. Conclusion: Transverse myelitis (TM) is a rare phenomenon in pregnancy, therefore obstetric care is needed, and if untreated in this critical condition, it may lead to complications such as deep vein thrombosis, urinary tract infections, and preterm labor. This will require an additional component of coordination between women and their families.

Patriarchy Without Masculinity in Homa-Bay County of Kenya (1894-2022)

Purpose: The purpose of this treatise is to justify the existence of patriarchy without masculinity because of the existence of patriarchal shell as evidenced in the male failure to meet the societal expectation of a functioning masculinity. This study is premised in the pre-colonial belief that in patriarchal society men made far-reaching decisions, they were the breadwinners and wielded exclusive authority and power.
 Methodology: The study used historical research design of Gottschalk Louis to collect, verifies, and synthesizes evidence from the past to establish facts that defended the existence of patriarchy without masculinity in Homa Bay. Purposive and snowball sampling techniques were used to identify the individuals and gender groups informants during the primary data collection. Primary data was also gathered from the National Archives to triangulate oral and secondary data. Secondary data were collected from, thesis, journal articles, books, and other publications from the internet, university, and other libraries.
 Findings: The data collected is given thematic content analysis based on study question. Primary and secondary data sources were corroborated to attain the validity and reliability of findings. The publication utilizes patriarchal theory of Robert Filmer which highlights the role of culture on gender performance roles and explains the role of patriarchal ideology in elevating men and making woman to depend on them for survival. In this study masculinity is viewed as a quality or set of habitual performed roles which were stereotypically connected with male gender as opposed to inherent in male. Contrary to the above, this study established that men still claim to have socio-economic and political entitlement in Homa Bay but the level of degeneration and reduction on the same is below expectation. Such degeneration makes patriarchy a shadow of its original reality. This premised in the study findings that there exists a widening masculine gap between the pre and postcolonial men of Homa Bay. The evidence in Homa Bay shows that most men fail to meet the societal expectation in their performances but grapple with vulnerability as they helplessly stare at the systematic loss of pre-colonial socio-economic and political patriarchal authority.
 Unique Contribution to Theory, Policy and Practice The existence indicators of the decline of patriarchal dominance in Homa Bay such as long-life expectancy among women, high birth rate among baby girls and the socioeconomic and political degeneration, make patriarchal; theory to be rethought. This paper shows that in the pre-colonial society, there was a concept of valorized hegemonic masculinity which men strived to emulate that consequently established patriarchy. Therefore, the policy makers, governments and the non-governmental organizations should reorganize their strategies to save masculinity from extinction for the purpose of gender egalitarian societies.

P26 Leukaemia cutis as the first manifestation of acute myeloid leukaemia

Abstract Leukaemia is the most frequent malignancy of childhood, accounting for approximately 30% of all malignancies. Acute leukaemia may present in a variety of extramedullary manifestations, the commonest being leukaemia cutis (LC). LC is the infiltration of the epidermis, dermis or subcutis by neoplastic leukocytes with skin lesions preceding the development of leukaemia in the peripheral blood or bone marrow in just 2–3% of cases. A 6-month-old baby girl was reviewed due to multiple skin lesions which appeared on her left forearm 2 months previously, and spread widely, showing over 50 in the following weeks. They were well-circumscribed, nontender, violaceous nodules. She was clinically well and thriving with no lymphadenopathy or organomegaly. Blood tests and abdominal ultrasound were normal. A skin biopsy of a nodule demonstrated an infiltrate of medium-sized atypical cells involving the dermis and subcutis. Immunostaining showed CD45 expression and the Ki67 proliferation index was high, in keeping with a leukaemic infiltration. Cytogenetics performed on the skin biopsy showed KMT2A rearrangement by FISH. Bone marrow aspirate confirmed the diagnosis of acute myeloid leukaemia with monoblastic morphology, and cytogenetics confirmed the rearrangement as a KMT2A–MLLT10 fusion, which is classified as poor cytogenetic risk. Cerebrospinal fluid analysis was negative. It is vital to get a histological diagnosis (with cytogenetics) in a child presenting with violaceus nodular lesions even if the child is well. Importantly, LC can present with a normal full blood count. A bone marrow aspiration is paramount to confirm the diagnosis. Once leukaemia is diagnosed, cytogenetics plays a key role in stratifying treatment intensity.

Anesthesia Management in A Newborn Baby with Tracheoesophageal Fistula: A Case Report

Background: In infants with esophageal atresia/tracheoesophageal fistula, excessive salivation, coughing, choking, cyanosis, and regurgitation associated with attempts to eat may be seen, as well as aspiration of gastric contents. Thus difficulties encountered during anesthetic management include ineffective ventilation due to an endotracheal tube placed in the fistula, massive gastric dilatation, preexisting severe lung disease from aspiration of gastric contents and/or respiratory distress syndrome of prematurity, and associated anomalies, especially cardiac. This study aimed to discuss the anesthetic management of neonates with tracheoesophageal fistula.
 Case presentation: The patient was a 12-day-old baby girl with type C tracheoesophageal fistula. Anesthesia was performed using general anesthesia. The procedure lasts 3 hours 15 minutes. The patient underwent closure of the esophageal fistula, repair of the trachea in the distal part of the tracheoesophageal fistula, and performed end-to-end anastomosis proximal and distal esophagus. Postoperatively the patient was treated at the neonatal intensive care unit on a ventilator and given a combination of opioid and non-opioid analgesics.
 Conclusion: The key to successful anesthetic management in the operation of a patient with a tracheoesophageal fistula is airway management, where the ETT must be properly placed on the trachea and try not to get the ETT into the fistula.

A neonate with metatropic dysplasia: A case report

Metatropic dysplasia is a rare form of skeletal dysplasia in which characteristic clinical and imaging features are found at birth. The short limbs with relatively long trunk seen in the neonatal period change to short trunk in childhood due to progressive kyphoscoliosis. This rare condition should be diagnosed in the neonatal period to avoid diagnostic dilemma in later life. A 2-day-old baby girl was referred for a skeletal survey study to diagnose the underlying skeletal dysplasia. The metatropic dysplasia was diagnosed based on plain radiographic findings. This case report highlights the characteristic radiographic findings of this rare disease entity.

Resolution of Fetal Hydrops-not a Favorable Outcome in Congenital Pulmonary Malformation Type 1

Background: Congenital pulmonary airway malformations (CPAMs) comprise a spectrum of anatomical anomalies of the lungs and respiratory tree. The natural history of prenatally diagnosed CPAM varies from in utero resolution to progression to hydrops and intrauterine death. The majority of fetuses (90%) have a good outcome. However, in a minority (10%), the mass may grow so large that it is associated with complications and becomes life-threatening to the fetus. Clinical Description: Prenatal diagnosis of giant left CPAM type 1 was made at 24 weeks of gestation in a 29-year-old primigravida woman. The lesion consisted of multiple large cysts with a CPAM volume ratio of 4.7. Since the diagnosis, the mass was associated with nonimmune fetal hydrops and polyhydramnios which got worse throughout the following 4 weeks of gestation. Doppler studies remained normal until term. Management: The family received prenatal counseling. Parents refused termination of pregnancy and any other invasive or pharmacological therapy in light of the bad prognosis. The pregnancy was strictly monitored using standard fetal lung parameters. By 31 weeks' gestation, hydrops spontaneously improved to resolution but without any change in the size of the cysts. A baby girl was delivered at term, with birth asphyxia, who, despite all efforts by a multidisciplinary team, could not be revived. Autopsy and histopathological findings were compatible with type 1 CPAM. Conclusion: Hydrops is a well-known complication in fetuses with congenital cystic adenomatoid malformation. The present case reminds the possibility of its spontaneous resolution during pregnancy, even though the cyst size remains unaltered. The eventual neonatal survival depends not on the presence of hydrops but on the cyst volume and underlying lung hypoplasia.

Double-site Intussusception in an Infant

Background: Although intussusception is a well-known phenomenon in childhood, double-site intussusception is rarely encountered. We report an interesting case of idiopathic double-site, two ileoileal intussusceptions. Clinical Description: An 11-month-old baby girl presented with acute-onset vomiting and abdominal distension over 3 days. There was no associated history of fever, respiratory tract infection, or gastroenteritis. The infant was otherwise healthy, thriving well, without any significant medical or surgical illness in the past. On examination, the infant was alert, but irritable, hemodynamically stable, with abdominal distension without any lump or organomegaly. Management: The infant was stabilized with supportive care initially. The abdominal radiograph revealed multiple air–fluid levels with a paucity of distal gas shadows. Ultrasound showed a single-target sign in the right lumbar region. At laparotomy, an ileoileal intussusception was detected. During manual reduction, another intussusception was identified; the distal one was also ileoileal at the terminal ileum with its apex at the ileocecal junction. Both intussusceptions were successfully reduced. No pathological lead point was observed for each intussusception. Symptoms resolved, and there was no recurrence. Conclusion: This case creates awareness about the rare occurrence of double-site intussusceptions, which are not always detected by imaging methods. A careful inspection of the entire gut intraoperatively is essential to avoid missing such unsuspected second intussusceptions.

Congenital hyperoxalosis: a rare metabolic disorder in a term neonate with perinatal autopsy findings

Introduction: Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder resulting from an inborn error of metabolism. It causes renal tubular oxalosis which often leads to renal failure and early foetal demise. Only a few cases of PH detected in the neonatal period have been published in the literature.Case report: This baby girl was the second child of a 30-year-old woman of a second-degree consanguineous marriage. Maternal gestational diabetes mellitus was diagnosed during the antenatal period. The baby was delivered at 37 weeks + 2 days of gestation following an emergency lower segment caesarean section due to the absence of liquor. A few hours after birth the baby developed respiratory distress and reduced urine output. Investigations revealed high serum creatinine levels. The ultrasound scan was suggestive of acute kidney injury and the baby died on day 2. There was no known family history of renal diseases. During the pathological autopsy examination, there were no definite dysmorphic features. The internal examination revealed bilateral lung hypoplasia and patent ductus arteriosus. The kidneys were of normal size and shape and the microscopy showed numerous, widespread, polarizable oxalate crystals within the renal tubules, in favour of primary hyperoxaluria.Discussion and conclusion: The extensive renal damage imparted by oxalate deposition may have contributed to the impaired renal function and resulted in obstruction to the urine output, leading to oligohydramnios and pulmonary hypoplasia. Confirmation of the diagnosis of PH requires examination of urine and serum for high oxalate levels and detection of specific genetic mutations. Family screening and genetic counselling are necessary.

ROLE OF SHODHANA IN THE MANAGEMENT OF UNEXPLAINED INFERTILITY: A CASE REPORT

Unexplained infertility refers to a diagnosis made in couples in whom standard investigations, including semen analysis, ovulation testing, and tubal patency, yield average results. A 29-year-old woman who had had trouble conceiving for three years got admitted. She has had regular menstruation cycles since she was 17, and bleeding usually lasts 4-5 days. Her secondary sexual signs were typical, and there was no evidence of any other systemic disease. So, treatment was planned based on the concept of kshetra shudhi (purification of the uterus). The patient was of Vata Pitta prakriti (Vata Pitta constitution), and considering kala (season) and other factors, vamana (emesis) and virechana (purgation) was planned. Vamana karma (emesis) is done with Madanaphaladi yoga (Randia dumeorum medicines) after doing snehapana (intake of medicated ghee) with Indukantham ghrita. Virechana (purgation) was done with Manibhadra gulam after doing snehapanam (intake of medicated ghee) with Kalyanaka ghrita. The patient conceived soon after her first menstrual cycle and delivered a healthy baby girl. The kshetra (uterus) should be devoid of the morbid dosha for conceptions. Vamana (emesis) and virechana (purgation) have action all over the body, and so it does kshetra shudhi (purification of the uterus).

Diagnostic problems of pregnancy in a mother with fetal anencephaly

Anencephaly is a rare but fatal central nervous system anomaly involving failure of the neural tube to close during fetal development in the mother's womb. The number of anencephaly cases varies, globally estimated to be between 0.5-2 per 1,000 births. Anencephaly cannot be treated but can be detected early. A 38-year-old woman presented with complaints of abdominal tightness that had been felt since 10 hours before admission, with a diagnosis of G5P4004 30-31 weeks, live singleton, latent phase 1, anencephaly. Cito sectio caesarea and pomeroy tubectomy were performed. The baby girl weighed 1800 grams, 40 cm in length, APGAR score 3/5, with anencephaly. The baby died 2 hours after birth. The prognosis for babies born with anecephaly is poor. Termination of pregnancy is the only option to prevent the birth of a child with anencephaly, but it is still controversial in Indonesia.

A Baby Girl Born with Bilateral Congenital Cataract to A Mother with Unilateral Congenital Cataract Treated in Childhood

We hereby disseminate a case of a baby girl, who at ten months of age received MMR vaccine but was discovered to later have unilateral congenital cataract at eight years of age. At 25 years, she was married giving birth to a baby boy who had normal vision. Unfortunately, the second baby girl was detected to have bilateral cataract for which the baby at four months of age underwent lens aspiration and anterior vitrectomy of both eyes at a gap of one week. A month later a glass with bilateral +21 Diopters were prescribed. She is planned for intraocular lens implant at around four years of age. She is on currently on visual rehabilitation and treatment for amblyopia Learning lesson from this case being the fact that congenital cataract may run in family and may impart vision deprivation in the offspring; therefore, the importance of preconception counseling is important.

STRATEGI PEMASARAN TERNAK AQIQAH (STUDI KASUS PADA UNIT BISNIS PT. AGRO NIAGA GLOBAL)

Aqiqah is the Islamic tradition of the sacrifice of an animal on the occasion of a child’s birth. It is widely performed by Muslim and it is considered sunnah to slaughter one goat or sheep for the baby girl and two goats or sheeps for the baby boy. Goat is the one of livestock’s commodity that could be managed into a profitable Aqiqah’s business. As time goes on, Aqiqah’s business is sprung up a lot. The existence of similar business can be an opportunity or a threat for company. Therefore, the company need to developing their marketing strategy in order to enhance the position and continue to hold in the market. The purpose of this research are to identify strength, weakness, opportunity, and threat on Jawara Aqiqah, and to formulate alternatives marketing strategy of Jawara Aqiqah. The type of this research is case study with qualitative approachment. This research was conducted on Jawara Aqiqah at PT.Agro Niaga Global’s business unit. The data on this research was primary and secondary data which was collected by method of interview, documenter, and literature study. The data of this research was analyzed by SWOT. The validity of data is checked by reference material, endurance of observation, and triangulation. Based on IFE matrix obtained 2.990 score and EFE matrix obtained 2.984 score. Jawara Aqiqah is located in cell V on IE matrix which mean hold and maintain. The strategy that could be apply by company in this position are market penetration strategy and product penetration.

PHACE syndrome in a Nigerian newborn: case report and literature review

Background: PHACE syndrome is a rare neurocutaneous disorder characterised by large cervicofacial haemangiomas and associated anomalies of the brain, cerebro-vasculature, aorta, heart, and eyes. This case report describes the clinical presentation, management, and literature review of the disorder. Case Report: An hour-old term baby girl presented with a large midline facial haemangioma, microcephaly with absent anterior fontanelle, right microphthalmia, and absent left eye. She also had multiple seizures. There were telangiectatic areas all over the extensor surfaces of both the upper and lower limbs. There was a wide disparity between the heart rate and pulse rate with a radio-radial delay. The respiratory and digestive systems were essentially stable. Transtemporal and trans-posterior fontanelles USS showed hydrocephalus in the lateral ventricles. A brain CT scan showed intracranial defects in the posterior fossa. Based on the haemangioma, posterior fossa brain malformation, cardiovascular, ocular, and signs of cerebrovascular anomalies, the diagnosis of PHACE syndrome was made. A multi-disciplinary treatment approach was thimplemented. However, the patient died on the 29 day of life. Conclusion: PHACE syndrome is a rare condition that has only been described three hundred times in medical literature. The Multidisciplinary approach to management can be challenging in low-resource settings. However, knowledge of the features is crucial for the diagnosis and proper management of PHACE syndrome patients