Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when ...

INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This neurodevelopmental disorder presenting neurological dysmorphic feature including intellectual disability, limb craniofacial abnormalities. We present case of TBCK mutation variant (p.Gln164*), on Exon 6; ...

Zellweger syndrome (ZS) disorders are autosomal recessive peroxisomal biogenesis diseases mainly characterized by neonatal onset severe neurodevelopmental delay, profound hypotonia, craniofacial dysmorphism, hepatic dysfunction, polyneuropathy and loss of hearing and vision. There is a wide genetic heterogeneity that while most ZS disorders are rapidly progressive and incurable, and patients ra...

Nonketot ic hyperglyc inaemia or nonketo t ic hyperglycinaemic encephalopathy (NKH) is an autosomal recessive inborn error of glycine metabolism with poor prognosis. The inherited defect of the glycine cleavage system leads to accumulation of glycine in body fluids, such as plasma, urine and particularly, cerebrospinal fluid (CSF). In the neonatal type, NKH generally presents with intractable s...

Transient neonatal non-ketotic hyperglycinaemia (NKH) is a rare metabolic disorder in neonates which is indistinguishable from its classic form during the neonatal period. To our knowledge, only a few cases (about 14) of transient neonatal hyperglycinaemia have been reported. We report a 2 day old neonate who presented with clinical (seizure) and biochemical (raised CSF/Plasma glycine ratio) fe...

Prader-Willi syndrome (PWS) is a disorder comprising severe neonatal hypotonia, hypogonadism, gross obesity, short stature, small hands and feet, mental handicap, a characteristic facial appearance (almond shaped eyes, thin downturned upper lip, and a narrow bitemporal diameter), nasal, inarticulate speech, and a particular personality profile. 2 Prader-Willi syndrome has a biphasic course. Ini...

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal ...