Musculocontractural type of Ehlers-Danlos syndrome with novel CHST14 pathogenic variant in two siblings.

Musculocontractural Ehlers-Danlos syndrome (MC-EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.

Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation.

A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.

Acute liver failure due to hepatitis A virus presented with Guillain-Barré syndrome and ocular myasthenia gravis.

Hepatitis A is one of the most common causes of acute viral hepatitis in children. Immunological manifestations involving the nervous system are rare with hepatitis A infection. We report a case of a toddler who presented with acute liver failure secondary to hepatitis A infection. The child showed clinical and laboratory improvement initially with conservative management. However, after the initial improvement, she developed acute-onset ptosis along with areflexia. Serological and neurophysiological tests revealed the occurrence of ocular variant Guillain-Barré syndrome and ocular myasthenia gravis, which was only partially responsive to treatment (intravenous immunoglobulin and pyridostigmine). A sudden clinical deterioration was noted after the onset of ptosis. She succumbed on day 40 of hospitalisation due to hospital-acquired infection along with the primary hepatic pathology. This is a rare coincidental presentation of acute viral hepatitis A infection with autoimmune manifestations.

Magnetic resonance imaging brain yield in developmental delay: A developing country perspective.

BACKGROUND: Developmental delay (DD) is an important neuro-morbidity in children affecting the quality of life. MRI plays a crucial role by delineating the underlying structural, metabolic, and genetic abnormalities. AIM: To determine the yield of MRI brain in delineating the various underlying abnormalities and etiological factors in children with DD and to correlate these findings with the clinical presentation. METHODS: This cross-sectional study enrolled 50 children with the developmental delay between 6 months to 6 years of age. OUTCOMES AND RESULTS: The mean age was 31.32 ± 20.56 months. The sensitivity of MRI was 72%. 81.3% of the children with microcephaly had abnormal MRI. The most common underlying etiology was hypoxic-ischemic encephalopathy (42%), followed by congenital/developmental defects and metabolic diseases (10% each). The most commonly involved region of the cerebral cortex was the occipital lobe (44%) because of the high occurrence of coexisting hypoglycemic brain injury, which is extremely common in developing countries and rare in developed countries, with 80% of them having visual abnormalities. Frontal lobe involvement was significantly more in children with abnormal motor findings and behavioral changes. Cortical grey matter abnormalities were significantly more in children with seizures. CONCLUSION AND IMPLICATIONS: It is to be emphasized that children with developmental delays should be evaluated with MRI whenever possible. Apart from hypoxic-ischemic encephalopathy, other etiologies should also be looked for.