Hyperekplexia is a rare, potentially treatable inherited disorder of glycinergic neurotransmission, which is characterized by neonatal onset exaggerated startle response to somatosensory, auditory stimuli, and episodic tonic spasm. Prolonged tonic spasms can be life-threatening and associated with apnea and bradycardia. Awareness about this condition avoids misdiagnosis such as tonic seizures and epilepsy. We describe a term newborn with episodic tonic stiffness mistaken for seizures. Classical exaggerated startle reaction, positive head retraction response to glabellar tap, and characteristic video electroencephalogram confirmed the diagnosis.
We report a preterm male neonate with thrombosis of bilateral renal veins, infra-hepatic inferior vena cava, and superior sagittal sinus as well as left adrenal hemorrhage, which has been seldom reported in the literature. He was managed with appropriate antibiotics, enoxaparin, and supportive care which lead to resolution of thrombosis and normal renal function.
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