Intermittent clobazam therapy seems advantageous to diazepam due to similar efficacy but significantly lower adverse effects such as drowsiness and sedation.

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Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings of this case such as multiple bladder diverticulosis, GI diverticulosis and very rare accompanying hypertrophic pyloric stenosis (HPS).

Intestinal ischemia is caused by a reduction in blood flow to a level that is insufficient for the delivery of oxygen and nutrients required for cellular metabolism. It is often related to acute arterial occlusion (embolic or thrombotic), venous thrombosis, or hypoperfusion of the mesenteric vasculature causing a non-occlusive ischemia or vasoconstriction. Acute intestinal ischemia due to severe hyperplasia of the intima of mesocolic/mesenteric small arteries consistent with fibromuscular dysplasia (FMD) has not been previously described. We report the case of a 47-year-old otherwise healthy male who presented with an acute abdomen with negative computed tomography angiogram but ischemic enterocolitis with necrosis due to severe intimal thickening of the mesenteric/mesocolic small arteries resembling the pattern of FMD.

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder that involves the anterior horn motor neurons. It is a disease with a poor prognosis presenting with progressive distal motor weakness and respiratory insufficiency from diaphragmatic paralysis followed by distal muscle weakness before 6 months of age. With the intent to spread the awareness of this rare and life-threatening disease, we report a 2.5-month-old female infant with a subsequent diagnosis of SMARD1, who was admitted in our pediatric intensive care unit with chief complaint of progressive respiratory distress and poor feeding.

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