Leucocyte adhesion defect presenting as fulminant sepsis in a new born.

We present a term neonate with severe sepsis, presenting on day 10 of life. The neonate presented with bilateral purulent eye discharge and hepatosplenomegaly. On investigation, persistent leucocytosis was observed and thus the possibility of leucocyte adhesion defect was considered. Flow cytometry confirmed the diagnosis.

Overgrowth syndrome in neonates: a rare case series with a review of the literature.

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Both the neonates are doing well and are under regular follow-up.

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).

Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. The chromosomal disorders include Turner syndrome, trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 9. Among non-genetic causes, teratogen exposure like warfarin and acenocoumarol is well known but for the past few years cases have been reported with maternal autoimmune disease mainly systemic lupus erythematosus and rarely with mixed connective tissue disorder (MCTD). However, the exact mechanism for the occurrence of CDP in MCTD is still unknown. We present here a 35-week appropriate for gestational age baby born to a second gravid mother, a known case of MCTD on treatment with hydroxychloroquine. The baby had mid-facial hypoplasia and bilateral talar region punctuate calcification suggestive of chondrodysplasia punctata. Global data on such cases are very scant. Further research work is needed to explore the association of specific antibody titre with the occurrence of such condition in maternal autoimmune disease.

Is kangaroo mother care effective in alleviating vaccination associated pain in early infantile period? A RCT.

BACKGROUND: Childhood vaccination is a common procedure and a part of routine medical care during infancy. Although vaccination is the cornerstone for prevention of many infectious diseases, it is associated with significant pain, which is often ignored. Non pharmacological interventions such as breast feeding and kangaroo mother care (KMC) have been used to decrease this procedural pain. However there is paucity of published data on effective use of KMC in term neonates and infants beyond the neonatal age. METHOD: This randomized controlled trial included 61 infants ≤14 weeks of postnatal age, and compared KMC to swaddling during vaccination. Neonatal infant pain scale (NIPS) was used to assess the pain associated with vaccination. RESULTS: NIPS scores at 1 min and 5 min after vaccination and duration of cry were significantly less in the KMC group. CONCLUSION: KMC is effective in reducing vaccination associated pain in young infants.

Williams syndrome with severe hypercalcaemia.

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of nephrocalcinosis which is rare for this age group. The baby was managed symptomatically and specific treatment like pamidronate, calcitonin and steroid therapy were also administered to reduce hypercalcaemia. Severe hypercalcaemia with associated hypertension and nephrocalcinosis is very rare. Hence, we emphasise here the importance of early detection of these features and their appropriate management for a better outcome of the patient.

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.

We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Outcome of this condition is dismal. It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. No single case report has observed such an association, and this is the first case of ARC syndrome reported from India to the best of our knowledge.

Unusual cause of brachial palsy with diaphragmatic palsy.

We report a preterm neonate born with respiratory distress. The neonate was found to have diaphragmatic palsy and brachial palsy. The neonate was born by caesarean section and there was no history of birth trauma. On examination, there was bilateral congenital talipes equinovarus and a scar was present on the forearm. The mother had a history of chickenpox during the 16 weeks of pregnancy for which no treatment was sought. On investigation, PCR for varicella was found to be positive in the neonate.

Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.

The Beckwith-Wiedemann syndrome (BWS) is a rare genetic syndrome. However, this is one of the most common overgrowth syndromes. This is a genetically and clinically heterogeneous syndrome. Here, we report a case of Beckwith-Weidemann syndrome without macrosomia, visceromegaly and hemihyperplasia but having macroglossia, omphalocele and anterior linear ear lobe creases. The diagnosis was confirmed by gene analysis suggestive of imprinting centre 2 (KvDMR1) hypomethylation defect.