Explore Stories

Case 1 Acute Disseminated Encephalomyelitis (ADEM)

An 11 year old male child was brought with complaints of pain abdomen since 1 week, history of fever since 15 days. Child had complaints of neck pain, inability to walk and loss of control over bladder. Systemic examination done revealed hypotonia in lower limbs with hyporeflexia and sensation intact. MRI brain with spine done revealed - scattered T1 iso-hypo and T2/FLAIR white matter hyperintense areas noted in bilateral frontal, temporal and left parietal lobe , spinal cord had T2 hyperintensity noted involving spinal cord extending from C2 to D4 vertebral body level predominately involving central and posterior cord with mild cord swelling, suggestive of Acute Disseminated Encephalomyelitis. Child was started on Injection Methyl Prednisolone and other supportive management. Child clinically improved with partially attained bladder control and is on tapering doses of oral steroids.

Case 2 Hypophosphatemic Rickets in Siblings

A 9month old male child presented with complaints of short stature and bone deformities.The child is 2nd born offspring to a non consanguinously married couple after a full term uneventful pregnancy.There was significant family history of both parents being short with mother having windswept deformity along with short stature in elder sibling who had not been evaluated before.General physical examination revealed weight of 16.5kg(10th centile),height of 96cm(< 3rd centile).There were high arched palate, abnormal dentition,B/L genu varum ,intercondylar distance of 14cm.Laboratory findings revealed normal PTH,calcium, Vitamin D, raised ALP, decreased phosphorus of 2.9mg/dl,raised TMP/GFR of 2.9mg/dl (0.97-1.64).Xray of B/L knee done revealed signs of rickets.Child was adviced with Calcitriol ,Phosphorus supplements and follow up after 3 months
Hypophosphatemic rickets, most due to the X-linked dominant form caused by pathogenic variants of the PHEX gene, continues to pose therapeutic challenges with important consequences for growth and bone development, high risk of fractions and poor bone healing, dental problems, and nephrolithiasis or nephrocalcinosis. Conventional treatment consists of PO4 supplement and pharmacologically dosed calcitriol carefully monitoring for clinical efficacy and treatment-emergent adverse effects.Newer therapeutic modalities focus on calcium sensing receptor modulation (cinacalcet) and biological molecules targeting FGF23 or its receptors.

Case 3 A rare case of Smith-Lemli-Opitz syndrome

A single live late preterm (36 weeks ) female baby delivered by NVD , brought on day 13 of life with complaints of persistent vomiting . Birth weight of 2 kg with mother a K/C/O Diabetis Mellitus since 3 years on Human actrapid since 3 years , Born to P2L2 mother with history of other siblings being healthy. Neonate diagnosed at birth with SLOS with features of microcephaly ,failure to thrive , syndactyly in both feet , high arched palate . On examination there was reverse peristalsis observed , with diagnostic indicators of hypercholermic metabolic alkalosis , increased triglyceride levels , USG abdomen showed features of IHPS. Genetic analysis sent revealed deletion of G303R, located on exon 8 the DHCR7 gene .
Baby was surgically taken up for pyrolomyotomy and post op was uneventful .Child was started on antioxidant supplements and Simvastatin and was discharged on 66 day of life with OG feeds with improvement in weight and the child was followed up regularly with pediatric surgeon and genetic councellor

Case 4 Treacher Collins syndrome- A Rare Case

A 68 hours old, preterm male baby born to a 2nd degree consaguinously married couple came with history of hurried respiration since birth. On examination child had unilateral preauricular skin tags, depressed nasal bridge, high arched palate, micrognathia and retrognathia. The child was admitted to NICU for respiratory distress and treated symptomatically. The 2D ECHO and USG abdomen were normal. Plan for hearing evaluation and genetic workup is done once the baby improve clinically.
Genetically in Treacher Collins syndrome, the treacle gene (TCOF1) is mutated. It is found on chromosome 5q32 and encodes a serine/alanine rich nucleolar phosphoprotein responsible for the craniofacial development. Franceschetti has classified TCS into five categories‑ i.e., complete, incomplete, unilateral, abortive and atypical form. Symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe.