Rubinstein Taybi syndrome (RSTS) also known as Broad Thumb Hallux Syndrome characterized by distinct facial features with beaked or straight nose, short stature, moderate to severe intellectual disability, broad thumb and big toe. We report an interesting case of female child with history and examination suggestive of RSTS with Nephrotic syndrome. Investigation revealed presence of albumin in urine with hypercholesterolemia and hypoalbuminemia. Purpose of this case report is to highlight the distinctive presentation of this syndrome and to update the current state of knowledge.
Hyperekplexia is an exaggerated startle to external stimuli associated with generalized increase in tone seen in a normal newborn with both sporadic as well as genetic predisposition. This is an uncommon neurological entity that is often confused with seizure in infancy. To date about 150 cases have been reported in the literature. We report a 6-week-old infant with characteristic intermittent generalized tonic spasm misdiagnosed as seizure disorder and was on phenobarbitone. With characteristic stiffening episode and exaggerated startle without habituation on tapping the nose we came to a clinical diagnosis of Hyperekplexia or Stiff baby syndrome or Startle disease. The child was started on Clonazepam to which he responded remarkably with decreased startle reflex. The aim of this case reporting is to through insight to this disease entity when we see an intermittent hypertonic infant.
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