Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia.

Townes-Brocks syndrome is a rare malformation syndrome characterized by thumb, auricular, renal, and anal anomalies. Both familial and isolated cases with clinical heterogeneity were reported in the medical literature. We present a sporadic case with typical clinical features and extended spectrum, that has previously not been described. Left sided facial palsy, external auditory canal atresia, club hand with radius aplasia, bilateral clubfoot, and sacral skin tag were the additional findings. Isolated patent ductus arteriosus was the associated congenital heart defect. Thrombocytopenia was another documented hematological abnormality.

Feasibility and Safety of Therapeutic Hypothermia and Short Term Outcome in Neonates with Hypoxic Ischemic Encephalopathy.

Therapeutic hypothermia is well known for neuroprotection in asphyxiated neonates with hypoxic ischemic encephalopathy. The authors aimed to study the feasibility and safety of therapeutic hypothermia and short term outcome in neonates with hypoxic ischemic encephalopathy (HIE). Total 31 neonates with moderate to severe HIE were enrolled in the study. Continuous temperature recording was noted in 31 neonates; 17 neonates were studied prospectively while 14 neonates were studied retrospectively. Rectal temperature was monitored in 31 neonates and maintained between 33 and 34 °C by switching off the warmer and using ice packs. Reusable ice packs were used which were inexpensive. Therapeutic hypothermia was maintained for 72 h and babies were then rewarmed 0.5 °C every hour. Therapeutic hypothermia was feasible and inexpensive. There was no major complication during the study. MRI was done in 17 neonates; 52 % were found to have normal MRI at the end of first week. Among the study neonates (n = 31) 64.5 % were neurologically normal at the time of discharge. To conclude, therapeutic hypothermia is feasible in a low resource setting and is a safe way of neuroprotection. Short term outcome was also favourable in these neonates.

Recurrent and novel GLB1 mutations in India.

GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme ß-d-galactosidase. In this study, we report molecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic sequences of GLB1 gene. We identified 33 different mutations (20 novel and 13 previously reported). The novel mutations include 12 missense (p.M1?, p.E129Q, p.G134R, p.L236P, p.G262E, p.L297F, p.Y331C, p.G414V, p.K493N, p.L514P, p.P597L, p.T600I), four splicing (c.246-2A>G, c.397-2A>G, c.552+1G>T, c.956-2A>G), three indels (p.R22Qfs*8, p.L24Cfs*47, p.I489Qfs*4) and one nonsense mutation (p.Q452*). Most common mutations identified in this study were c.75+2InsT (14%) and p.L337P (10%). Known mutations accounted for 67% of allele frequency in our cohort of patients, suggesting that these mutations in GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, ß-domain 1 and ß-domain 2. In silico sequence and structure analysis of GLB1 reveal that all the novel mutations affect the function and structure of the protein. We hereby report on the largest series of patients with GM1 gangliosidosis and the first from India.

Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome involves initial sudden and prolonged unilateral convulsive seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Seizures are prolonged, difficult to control and sometimes may require surgery. Hemiplegia varies in intensity, differs from Todd paralysis and disappears in about 20% of cases. Neuroimaging characteristically shows brain atrophy more pronounced on the hemisphere contralateral to the side of hemiplegia with dilation of the ventricular system. A 20-month-old girl presented with left hemiconvulsions and left hemiplegia lasting for a prolonged period. Seizures failed to resolve with various anticonvulsants even after many physician contacts. Characteristic neuroimaging findings, seizure control with carbamazepine and valproate, subsequent recovery of hemiplegia and attainment of developmental milestones observed on follow-up confirmed HHE syndrome. The case highlights the need for good seizure control in this syndrome.

Sixth hour transcutaneous bilirubin predicting significant hyperbilirubinemia in ABO incompatible neonates.

BACKGROUND: Neonates with ABO hemolytic disease are at greater risk for developing significant hyperbilirubinemia. We aimed to determine whether sixth hour transcutaneous bilirubin (TcB) could predict such a risk. METHODS: TcB measurements were obtained at the 6th hour of life in blood group A or B neonates born to blood group O, rhesus factor compatible mothers. Subsequent hyperbilirubinemia was monitored and considered significant if a neonate required phototherapy/exchange transfusion. The predictive role of sixth hour TcB was estimated. RESULTS: Of 144 ABO incompatible neonates, 41(OA, 24; O-B, 17) had significant hyperbilirubinemia. Mean sixth hour TcB was significantly higher among neonates who developed significant hyperbilirubinemia than those who did not (5.83±1.35 mg/dL vs. 3.65±0.96 mg/dL, P<0.001). Sixth hour TcB value >4 mg/dL had the highest sensitivity of 93.5% and >6 mg/dL had the highest specificity of 99%. Area under receiver operating characteristic curve was 0.898. CONCLUSION: Sixth hour TcB predicts subsequent significant hyperbilirubinemia in ABO incompatible neonates.

Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant.

Hypomelanosis of Ito (HI) is a neurocutaneous syndrome characterized by hypopigmented cutaneous lesions and extracutaneous manifestations frequently affecting the nervous system and the musculoskeletal system. Dysmorphic features, dental, ophthalmic, gastrointestinal, cardiac, and renal abnormalities are described in a minority of patients. The authors describe a 4-month-old infant having HI with unusual pulmonary hypoplasia that has not been reported so far.

Rowell syndrome.

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

An infant with chronic severe neutropenia.

Neutropenia in infancy and childhood poses a diagnostic challenge as the aetiology ranges from acute life-threatening conditions to chronic benign diseases. Chronic benign neutropenia of infancy is a rare disorder occurring in 1:100,000. The neutrophil count continues to be low for a prolonged period until spontaneous resolution by the age of 3-4 years. Such infants are having higher incidences of minor infections requiring treatment with antibiotics and rare incidences of meningitis and sepsis. The authors describe an infant presenting with fever and cervical lymphadenitis, who was found to have isolated severe neutropenia and its persistence posing a diagnostic challenge. The prolonged course with minor infections and absence of serious underlying conditions finally confirmed chronic benign neutropenia of infancy.

Time to positivity of blood cultures in neonates.

Blood culture reports in neonatal sepsis aid physician in either optimizing therapy or discontinuing antibiotics. We determined the time taken for neonatal blood cultures to become positive using the aerobic BacT/Alert system. Of 944 blood cultures from 816 neonates, 139 (14.7%) were positive. Growth of all definitive bacteria, 95% of possible bacteria and 84% of fungi were detected within 48 hours of incubation.

Bardet-Biedl syndrome in two sisters: A rare incidence.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.

Amitraz poisoning.

Amitraz is a formamidine insecticide and acaricide which acts on alpha 2-adrenergic receptors. There is little information available in the literature about the toxicity and treatment of poisoning by this compound. The authors report amitraz poisoning in a 13-y-old boy which was managed with supportive care with a good outcome.