Full-term Baby Girl Research Articles

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

AN AORTOPULMONARY TUNNEL AS AN EXTRA-CARDIAC SYSTEMIC TO PULMONARY SHUNT

Aortopulmonary window, one of the rarest congenital heart diseases, causes unrestricted left-to-right shunt and may lead to congestive heart failure, pulmonary vascular obstructive disease and low cardiac output. Echocardiogram and CT angiography are important non-invasive diagnostic tools. Surgical closure is indicated in all patients diagnosed with APW and is usually performed at the time of diagnosis to reduce the risk of developing early pulmonary vascular disease. We report on a term baby girl with variant of aortopulmonary window which manifest as a tunnel on CT angiography.

Neonatal Lupus presenting with neonatal hemochromatosis-like liver disease that responded to steroids: a case report

BackgroundNeonatal lupus erythematosus is a rare multisystem autoimmune disorder that predominantly involves the heart with congenital heart block but can involve other organs including the liver. The disease results from passage of maternal autoantibodies to the fetus and manifests in various forms depending on the organ involved. Neonatal lupus liver disease manifestations range from benign elevation in aminotransferases to fatal hepatic insufficiency with iron deposition that does not respond to therapy. Only a handful of cases have been reported to date. The antibodies implicated are Sjogren Syndrome types A and B antibodies. Other non-specific autoantibodies can be positive as well such as antinuclear antibodies. Smooth muscle antibodies are classically considered specific to autoimmune hepatitis, and while they have been described in other chronic liver diseases, they have not been described in neonatal lupus liver disease. Herein we report a rare case of neonatal cholestasis due to neonatal lupus liver disease that presented with a positive smooth muscle antibodies in addition to a biochemical picture of neonatal hemochromatosis, with a remarkably elevated ferritin, that responded well to steroid therapy. Case presentationAn 8-day old full-term baby girl was referred to our center for evaluation of neonatal bradycardia and generalized jaundice that started in the first day of life. Prenatal history was significant for fetal bradycardia. Examination was unremarkable except for bradycardia and generalized jaundice. Laboratory findings included elevated alanine aminotransferase, aspartate aminotransferase, Alkaline Phosphatase, and total and direct bilirubin. Her ferritin was markedly elevated along with triglycerides. Sjogren syndrome antibodies were positive in addition to antinuclear and anti-smooth muscle antibodies. The diagnosis of cardiac neonatal lupus was given, and her liver disease was attributed to lupus despite the biochemical picture of neonatal hemochromatosis. She was started on oral prednisolone for which her liver function parameters showed a dramatic response and continued to be within the normal limits several weeks after discontinuation of steroids.ConclusionNeonatal lupus liver disease is a rare cause of neonatal cholestasis that can rarely present with neonatal hemochromatosis picture which unlike other causes of neonatal hemochromatosis can be reversed with steroid therapy.

Polydactyly and Single Umbilical Artery

Background: Beckwith–Wiedemann syndrome (BWS) is the most common genetic overgrowth syndrome characterized by the triad of macroglossia, macrosomia, and abdominal wall defects. Clinical Description: We report the case of a term baby girl who was born with mesoaxial polydactyly of her left foot. There were no significant antenatal events or exposure to teratogens, although a single umbilical artery (SUA) had been detected on antenatal ultrasonography. There was no evidence of in utero growth retardation. The birth weight was 3.3 kg and the perinatal transition was uneventful. The general physical and systemic examination was otherwise remarkable. Targeted search for concealed major anomalies was negative and the baby was discharged as nonsyndromic polydactyly, emphasizing the need for regular vigilant surveillance on follow-up. At 6 weeks, significant hypertrophy of the left lower limb was noted. This led the direction of evaluation toward lateralized overgrowth syndromes. Management: The application of the diagnostic algorithm prompted us to order first-tier genetic testing by methylation-specific multiplex ligation-dependent probe amplification assay. This identified aberrant DNA methylation in the chromosome 11p15 region, establishing the diagnosis of BWS. SUA and polydactyly have not been reported in combination in BWS earlier. Conclusions: Neonates with minor anomalies should always have a detailed physical examination at birth and be actively evaluated for major concealed anomalies. Since many clinical manifestations become apparent with age, it is vital that affected babies be kept under close surveillance. A rationale, individualized, step-wise approach with multidisciplinary teamwork helps in establishing the diagnosis in infants with dysmorphic features.

Partial DiGeorge Syndrome with Hypertrophied Arytenoids in a Neonate

Background: DiGeorge Syndrome (DGS) is caused by the 22q11 deletion. There is wide variation in the phenotypic presentation due to incomplete penetrance. Since dysmorphism is subtle in neonates, a high index of suspicion should be kept. Clinical Description: A 2.8 kg term baby girl born of a cesarean section developed stridor and respiratory distress and was referred to our hospital at 14 days for the persistence of symptoms. The manifestations were severe, requiring respiratory support, and not explainable by clinical findings, radiological atelectasis, and normal echocardiography. The baby had hypocalcemia (that had been noted and treated earlier), hypoparathyroidism and Vitamin D deficiency, for which standard therapy was started. Airway endoscopy revealed hypertrophied arytenoids which have not been reported in DGS before. Management: The presence of abnormal laryngeal with hypocalcemia prompted us to consider DGS. The likelihood became stronger when a chest ultrasonogram detected athymia. The identification of 22q microdeletion by fluorescence in situ hybridization confirmed the diagnosis. It was decided to perform supraglottoplasty to avoid the postoperative complications associated with direct vocal cord repair. The postoperative period was uneventful. The immunological profile was normal, besides a low count of normal CD4+ naïve cells. The final diagnosis was partial DGS. Conclusion: Genetic testing for 22q11 deletion should be done in the presence of laryngeal pathology and any of the following: congenital cardiopathy, velopharyngeal insufficiency, thymic hypoplasia, and neonatal hypocalcemia.

C35. Congenital Heart Disease in Neonatal Lupus: a case report

Abstract Background Neonatal lupus (NL) is an autoimmune disease acquired in utero after exposure to antibodies produced by the maternal immune system against Ro and La antigens. It is considered as a syndrome since it can comprise manifestations including cardiac, cutaneous, and hematologic abnormalities. In many cases, mothers are clinically asymptomatic and only identified with serologic abnormalities when gestational surveillance reveals foetal bradycardia. Case Summary A term baby girl was born by c-section due to prolonged bradycardia, with one-minute APGAR score was five and five-minute APGAR was seven. She was the second baby from gemelli pregnancy of P4A0 mother. On further observation, the respiratory distress deteriorated, with the heart rate around 80-100 beats/minute on electrocardiogram showed total AV block. Laboratory examination showed anaemia, thrombocytopenia, hypoalbuminemia, and elevated C-reactive protein. The chest x-ray revealed pleural effusion, and from echocardiography, there was a small patent ductus arteriosus. ANA panel test showed positive 3+ for anti-Ro (SS-A) and Ro-32 recombinant. During treatment in NICU, this patient received dopamine, dobutamine, invasive mechanical ventilation, and chest tube thoracostomy installation. Later, she was referred to tertiary health care for pacemaker treatment. Discussion NL is an uncommon autoimmune disease that is present at birth. Affected infant develop various symptoms and complications, the most significant potential such as congenital heart block. Congenital heart block may manifest in various degrees. In this case, NL presented with a complete heart block which required a pacemaker for treatment.

C35. Congenital Heart Disease in Neonatal Lupus: a case report

Abstract Background Neonatal lupus (NL) is an autoimmune disease acquired in utero after exposure to antibodies produced by the maternal immune system against Ro and La antigens. It is considered as a syndrome since it can comprise manifestations including cardiac, cutaneous, and hematologic abnormalities. In many cases, mothers are clinically asymptomatic and only identified with serologic abnormalities when gestational surveillance reveals foetal bradycardia. Case Summary A term baby girl was born by c-section due to prolonged bradycardia, with one-minute APGAR score was five and five-minute APGAR was seven. She was the second baby from gemelli pregnancy of P4A0 mother. On further observation, the respiratory distress deteriorated, with the heart rate around 80-100 beats/minute on electrocardiogram showed total AV block. Laboratory examination showed anaemia, thrombocytopenia, hypoalbuminemia, and elevated C-reactive protein. The chest x-ray revealed pleural effusion, and from echocardiography, there was a small patent ductus arteriosus. ANA panel test showed positive 3+ for anti-Ro (SS-A) and Ro-32 recombinant. During treatment in NICU, this patient received dopamine, dobutamine, invasive mechanical ventilation, and chest tube thoracostomy installation. Later, she was referred to tertiary health care for pacemaker treatment. Discussion NL is an uncommon autoimmune disease that is present at birth. Affected infant develop various symptoms and complications, the most significant potential such as congenital heart block. Congenital heart block may manifest in various degrees. In this case, NL presented with a complete heart block which required a pacemaker for treatment.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

Acute Dengue Fever in a Neonate Secondary to Perinatal Transmission

Background: Dengue in pregnancy is associated with adverse maternal and fetal outcomes, including perinatal transmission. Case report: We report a case of neonatal dengue in a baby born to a 29-year-old primigravida at 38 weeks of gestation. She developed acute dengue fever 2 days prior to delivery. Her dengue nonstructural protein 1 antigen was reactive. She delivered a term baby girl via spontaneous vaginal delivery. Her fever persisted in the post-partum period which was associated with post-partum hemorrhage, altered coagulation, and liver function. She was clinically diagnosed to have hemophagocytic lymphohistiocytosis complicated with disseminated intravascular coagulation and treated with intravenous (IV) dexamethasone and multiple blood products, including fresh frozen plasma and platelet concentrate. She recovered in over the next 5 days. The baby girl was born with a birth weight of 3040g and developed fever on the third day of life with poor perfusion, associated with mottling and hypotension. The baby was treated with IV fluids, inotropes, and supportive care. The fever subsided after 48 h, along with clinical improvement, but continued with thrombocytopenia. The baby did not have any bleeding. Platelet recovery started on the 11th postnatal day (i.e., the 8th day of illness), and platelet count was normalized at 2 weeks. Dengue serology immunoglobulin M by enzyme-linked immunosorbent assay was positive for both mother and baby. The clinical diagnosis was confirmed by laboratory tests. Conclusion: Dengue fever in mothers very late in pregnancy can cause symptomatic dengue infection in neonates.

Successful Early Treatment of Severe Neonatal Hyperparathyroidism With Cinacalcet

Introduction: Neonatal severe hyperaparathyroidism (NSHPT) can cause significant bone disease early in life and prompt treatment is therefore necessary. Cinacalcet is a calcimimetic primarily used in adult patients with hypercalcemia to treat secondary hyperparathyroidism, but has only been trialed in neonates with NSHPT. Successful treatment appears to be dependent on the mutation leading to hypercalcemia. We describe a neonate born with severe hypercalcemia and a suspected mutation of the calcium sensing receptor (CaSR) who received successful early treatment with cinacalcet and decrease in calcium levels.Case Report: A full-term baby girl was found to have rapid breathing at 2.5 hours of life requiring CPAP. A chest x-ray demonstrated bone demineralization with rib fractures. Lab evaluation demonstrated hypercalcemia (total calcium = 12 mg/dl) with an inappropriately elevated PTH level of 386 pg/mL, hypophosphatemia (3.3 mg/dL), normal magnesium (2.0 mg/dL), a normal urine calcium to creatinine ratio of 0.26 and calcium to creatinine clearance ratio of 0.05 and a slightly low vitamin D-25 of 28.8 ng/mL.The father had a history of asymptomatic hypercalcemia without a diagnosis. Paternal genetic testing identified a heterozygous pathogenic CASR defect: c. 554G>A (p.Arg185Gln). This has been described in patients with NSHPT.The patient was initially treated with IV fluids and Lasix, but calcium levels did not decrease. Cinacalcet therapy was given on day of life 10. Patient had a decreased PTH to 231 pg/ mL after one day. After 26 days of treatment, patient’s PTH level decreased to 63 pg/mL. Patient was weaned off of CPAP and was discharged home.Discussion: Cinacalcet, a calcimimetic that works at the level of the CASR, was able to successfully and significantly decrease PTH levels in a neonate patient with NSHPT. Treatment options are limited in patients with this condition and we believe prompt treatment with this therapy facilitated patient’s discharge. The patient’s osteopenia secondary to the NSHPT and subsequent rib fractures resulted in a prolonged requirement of CPAP. Early recognition and treatment, even prior to results of genetic testing, prevented further fractures. We demonstrate the potential benefit of calcimimetics in a case of NSHPT where conventional treatment was ineffective. More importantly, we anticipate improvement in osteopenia and any future comorbidities secondary to this condition. Continued success with this treatment is yet to be evaluated.

Total gastrectomy with delayed Hunt-Lawrence pouch reconstruction for neonatal gastric perforation presenting with hematemesis.

The differential for neonatal hematoma sis ranges from benign etiologies to life-threatening emergencies. Neonatal gastric perforation is a rare cause of neonatal hematoma sis but is a deadly condition, requiring prompt diagnosis and treatment. The etiology is usually related to conditions predisposing to over distension of the stomach, such as positive pressure ventilation or distal obstruction, but in some cases cannot be determined. Patients generally present with abdominal distension and respiratory distress. We present a case of a 1-day old term baby girl who developed sudden onset hematoma sis and clinical deterioration, who was found to have a large proximal gastric perforation requiring emergent total gastrectomy with delayed reconstruction.

Congenital Genu Recurvatum

Congenital genu recurvatum is a rare malformation characterized by hyperextension of the knee and marked limitation of flexion1. We report a case of a newborn baby with hyperextension of right knee joint and anterior dislocation of tibia on femur. A full term baby girl born by normal vaginal delivery, presented with extreme hyperextension of right knee. Right knee was straightened passively. There were no associated anomalies. Radiograph revealed anterior dislocation of tibia on femur. Both hips were normal. Gentle manipulation followed by above knee slab was used on the first day of life. The slab was removed in three weeks. In three weeks, the knee adopted a normal shape. The slab was discontinued and the mother was advised to continue passive stretching. A follow up at the age of one month showed normal position of the knee.

Congenital rubella syndrome: a case report

Currently, rubella virus infections are very rare in many countries, and may not be recognized promptly. However, congenital rubella syndrome still appears, often in infants of mothers coming from countries with suboptimal vaccination programs. We describe a case of CRS in a full-term baby girl born to a foreign mother who documented perinatal antibodies against rubella. The baby had the classical abnormalities seen in infants with CRS include congenital cardiac and ocular anomalies. The diagnosis was confirmed by positive rubella serology in both infant and mother. Vaccination is the only known prophylactic measure for congenital rubella syndrome.

A Case Report Wandering Spleen in a Young Primiparous Woman Treated by Laparoscopic Splenectomy: A Case Report

Background: Wandering spleen (WS) is an uncommon splenic disorder defined as the displacement of the spleen from its usual anatomical position. It is most prevalent in females in their reproductive age. It can be encountered incidentally or may present with symptoms. Risks of complications exist and vary with the presentation. Several imaging techniques are able to define it clearly preoperatively. Laparoscopic surgery is the definitive diagnostic and therapeutic method. Case Report: A 24-year-old pregnant female patient presented to the Emergency Department complaining of intermittent dull abdominal pain and pelvic heaviness for 9 days. Contrast- Enhanced Computed Tomography and a color Doppler sonography of the abdomen and pelvis showed a large-sized spleen in the pelvis corresponding to a diagnosis of WS, without ischemic signs. The patient underwent a laparoscopic splenectomy and was vaccinated for Haemophilus influenza, meningococcus, and pneumococcus postoperatively. The post-operative period was uneventful, and the patient later delivered a full-term baby girl by a Cesarean section. Conclusion: This is, to the best of our knowledge, the second reported case of laparoscopic splenectomy in a pregnant patient with WS. While splenopexy is associated with better outcomes, splenectomy seems to be preferred in pregnant patients, who may undergo a vaginal delivery, but guidelines and data are still scarce regarding the management of WS in pregnancy. Vaccination against encapsulated bacteria is required in case of splenectomy

Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography

Aicardi syndrome is an X-linked condition that is associated with multiple ophthalmic malformations. Here, we report the first published fluorescein angiography (FA) study of a morning glory optic nerve in a patient with Aicardi syndrome and contralateral persistent fetal vasculature (PFV). A 12-day old full-term baby girl with a normal neurological exam was referred for evaluation of microphthalmia. The posterior segment of the right eye demonstrated chorioretinal lacunae typical of Aicardi syndrome and microphthalmos with a stalk consistent with PFV. The right eye imaging could not be captured due to the severe microphthalmos and cataract, however, fluorescein angioscopy was performed. The left eye demonstrated a morning glory appearing optic disc with peripapillary chorioretinal lacunae. Fluorescein angiography of the eye showed and late staining in the areas of ellipsoid chorioretinal lacunae emanating from the optic nerve and extensive peripapillary staining and late leakage of the optic nerve. Patients with Aicardi syndrome can have morning glory optic nerve anomaly and PFV. Using FA under anesthesia to detect these abnormalities help in estimating the extend of the disease and its complications, which allows for better management of the complications.

Should rcpaqap blood gas program include instrument calculated parameters?

A normal term baby girl was found to have low oxygen saturation on pulse oximeter (88–95%) on day 2 and did not respond to oxygen therapy. Cardio-pulmonary workup was uneventful. Arterial blood gas on room air revealed normal pH, pO2, pCO2, bicarbonate and sO2, but a high instrument-calculated p50 of 30–42 mmHg (RR 25–29) suggested a haemoglobin of low oxygen affinity. Haemoglobin HPLC analysis revealed an abnormal peak of 1.6% detected at RT 4.50 min which was shown by alkaline and acid electrophoresis, and subsequent DNA testing to be heterozygous HbA1:c.283G>A in the alpha1-globin gene (haemoglobin Titusville). This is a rare haemoglobinopathy involving a single nucleotide change from G to A at codon 94 of the alpha globin gene, and results in a lower oxygen affinity, indicated by oxygen dissociation curve right shift and high p50.1,2 While RCPAQAP Blood Gas program monitors key analyser measurements, there is no attempt to probe the performance of calculated parameters which may be determined by sophisticated hidden software, e.g., for p50. This case illustrates the importance of looking beyond the basic parameters of pH, pCO2, pO2 and bicarbonate and raises the desirability of RCPAQAP monitoring calculated parameters across various blood gas platforms which may be particularly vulnerable to haemoglobinopathies.3

SUN-371 Successful Induction of Fertility with Low-Dose Dexamethasone in a Patient with Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumor

Background Testicular adrenal rest tumors (TARTs) have been described in men with classic congenital adrenal hyperplasia (CAH) at a prevalence up to 90% and are a common cause of infertility in men with CAH. These tumors are located in the rete testis and because of their central location, can lead to mechanical obstruction, impaired blood flow and functional impairment of seminiferous tubules. TARTs have characteristics of adrenocortical cells and ACTH has been implicated in tumor growth. Previous reports have described restoration of fertility in patients with classic CAH and TARTs with administration of dexamethasone at relatively high doses of 750-1000 mcg daily (1, 2). We describe restoration of fertility in a male with classic CAH and TART with the use of lower dose dexamethasone. Case description A 28-year old male with classic CAH due to 21-hydroxylase deficiency presented to us for a follow-up visit after having been lost to follow-up for over a decade with concerns of impaired fertility. He had known bilateral TARTs, first noted at age 18. He and his wife had discontinued all forms of contraception 6 months prior to seeking care and reported a minimal coital frequency of 2-3 times/ week. His biochemical evaluation showed poor CAH control despite reported compliance with Prednisone 5 mg every morning and Fludrocortisone 50 mcg twice daily{(0800h evaluation prior to medication: 17-hydroxyprogesterone (17-OHP): 13060 ng/dL (reference: 13- 120); androstenedione (A4) 1025 ng/dl (reference: 26- 125), ACTH 866 pg/ml (reference: 5-46), plasma renin activity (PRA) 7.1 ng/ ml/h (reference: 0.6-4.3), FSH 1.7 U/L (reference: 1-11), LH 1.3 U/L (reference: 1-8 U/L) and total testosterone 473 ng/ dL (reference: 240-950). A semen analysis showed azoospermia (sperm count =0). Testicular ultrasonography (U/S) showed marked progression of total TART volume to approximately 16% of his total testicular volume (5.01 cc of 32.30 cc). Patient was switched to dexamethasone (250 mcg at bedtime) to suppress the nocturnal surge of ACTH to help decrease TART size. A follow-up U/S performed 5 months later showed a significant decrease in tumor size bilaterally. His total TART volume decreased by 90% (0.48 cc from a previous volume of 5.01 cc). Repeat semen analysis showed a sperm count of 131. In conjunction, biochemical control of CAH showed improvement with 0800h evaluation prior to medication: 17-OHP 66 ng/dL, A4 16 ng/ dL, ACTH 13.5 pg/ml, PRA 11 ng/ ml/h, FSH 5.4 U/L, LH 1 U/L and T 287 ng/dL. The patient’s wife was confirmed to be pregnant nine months after the initiation of dexamethasone and delivered a healthy full-term baby girl. Conclusion This case demonstrates that use of a long-acting glucocorticoid such as dexamethasone at doses as low as 250 mcg daily can decrease TART size and reverse male infertility. Acknowledgements This research was supported by the Intramural Research Program of the NIH.

Delayed diagnosis of spontaneous bladder rupture: a rare case report

BackgroundBladder rupture caused by trauma or pelvic fracture is very common, and can be easily diagnosed. However, Spontaneous rupture of the bladder is rare. Reported by Peters PC. (Peters, Urol Clin N Am 16:279–82, 1989): The incidence of spontaneous bladder rupture is 1: 126000. During childbirth, the occurrence rate of this disease is lower than that of the former. It is very difficult to make an early diagnosis of the spontaneous rupture of the bladder during childbirth, which eventually results in high maternal mortality.Due to peritoneal reabsorption, the patient may show high levels of serum creatinine and potassium, and this would easily be misdiagnosed as acute renal failure. However, these patients have normal renal function, hence the diagnosis of renal failure is incorrect.Case presentationA 23 year-old female patient had her first pregnancy and delivered a full-term healthy baby girl. After delivery, the patient developed fever, oliguria, massive ascites, high serum creatinine and high serum potassium. The patient was initially diagnosed with acute renal failure, however treatment for her condition was ineffective. After further examination, the patient was diagnosed with intraperitoneal bladder rupture. The patient was treated for bladder rupture, made a full recovery and was discharged.ConclusionsSudden onset of massive ascites and renal failure due to abnormal serum biochemical characteristics after delivery should be first diagnosed as spontaneous bladder rupture. However, bladder radiography may suggest a false negative result, hence cystoscopy should be performed to confirm the diagnosis. The ratio between ascites creatinine and serum creatinine would be helpful for early diagnosis and to determine the time of rupture. Conservative management or surgical repair should be used to treat bladder rupture.

No Two Alike: The Many Facets of Decision-Making for Cardiac Intervention in Trisomy 18

Introduction: New evidence has challenged the previously held dogma of Trisomy 18 (T18) as universally lethal. We discuss two cases illustrating the inherently complex and dynamic nature of decision-making for cardiac interventions in this population. Case 1: A term baby girl born with IUGR, complex congenital heart disease and neurologic anomalies was postnatally diagnosed with T18. After counseling on prognosis and care plan options, the parents opted for aggressive interventions with the likelihood of multiple cardiac surgeries. After undergoing PDA ligation at 2 weeks of life, she developed ventricular arrhythmia …

Diabetes insipidus and panhypopituitarism in a neonate with congenital toxoplasmosis

Objectives – Although congenital toxoplasmosis (CTox) is asymptomatic in most cases, some infants/neonates present with variable clinical manifestations, including anaemia, jaundice, hepatosplenomegaly, seizures, hydrocephalus, chorioretinitis and sensorineural deafness. Involvement of the hypothalamic-pituitary axis is rarely reported with CTox. Case report – We present a full term baby girl who was admitted to the hospital on the 15th day of her life, due to an intense tremor and irritability. Brain ultrasound and CT exam revealed calcifications of the brain parenchyma and severe ventriculomegaly. Serological and molecular findings (positive specific immunoglobulin M and immunoglobulin G antibodies, polymerase chain reaction) confirmed CTox. After diagnosis was established, specific therapy with pyrimethamine, sulfodiazine and folic acid was started. On the fifth day of hospitalisation, laboratory findings revealed high serum sodium and chloride, high serum osmolality, low urine osmolality and low urine specific gravity. Since these findings strongly suggested the diagnosis of diabetes insipidus (DI) in this new born, further endocrinological workup was performed to assess the pituitary function. An ACTH (synacthen) stimulation test showed a low basal cortisol level with a positive response after administration of synacthen. The free thyroxin level was also low and repeated prolactin levels were high. On the basis of these findings, it was concluded that this new born has panhypopituitarism and diabetes insipidus. Hormonal substitution therapy with hydrocortisone, L-thyroxine and desmopressin was started and gradual normalization of electrolytes and hormonal status was noted. Conclusion – A continuous endocrinological monitoring of a child with CTox is important and necessary for early detection, timely therapy and prevention of severe sequelae.