Moyamoya syndrome in a child with HbEß-thalassemia.

Moyamoya is a progressive cerebrovascular disease associated with stenosis or occlusion of the arteries of the Circle of Willis. It is uncommon in thalassemia. We present a 9-year-old girl with HbEß-thalassemia who presented with headache, vomiting, and episodes of transient hemiparesis with complete occlusion internal carotid arteries.

Congenital muscular dystrophy in Arab children.

The congenital muscular dystrophies are autosomal recessive disorders with different clinical phenotypes, the spectrum of which varies between different ethnic communities. We report our findings in 21 Arab children with congenital muscular dystrophy. All 21 cases were of the pure type, with normal mental status, except 1 case with perinatal hypoxic-ischemic insult. Fourteen were laminin alpha2 (merosin) deficient, and six were laminin alpha2 positive; laminin alpha2 status was not determined in one patient. None of the laminin alpha2-deficient patients achieved independent ambulation, whereas three of the laminin alpha2-positive patients were able to walk. The elevated levels of serum creatine kinase did not differentiate the two groups and tended to decrease after the age of 5 years. Radiologic evaluation demonstrated an abnormal central white-matter signal in 11 of 13 laminin alpha2-deficient and in 1 of 5 laminin alpha2-positive patients; none had evidence of brain dysplasia. Nerve conduction velocities were normal in 5 of 5 laminin alpha2-positive patients, whereas in the laminin alpha2-deficient patients, it was slow in 9 of 11 for the motor nerves and normal in 8 of 9 for the sensory nerve. Two of the laminin alpha2-positive patients had pseudohypertrophy of the calves, and two of the laminin alpha2-deficient ones had seizures. The patient in whom the laminin alpha2 status was not determined had a severe course, an abnormal central white-matter signal, and epilepsy and resembled more the laminin alpha2-deficient group.

Phacomatosis pigmentovascularis: Report of four new cases.

Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. The existing classifications of phacomatosis pigmentovascularis are based on phenotypic characteristics. We report four new cases of phacomatosis pigmentovascularis, three with phacomatosis cesioflammea demonstrating phenotypic variability, and one with phacomatosis cesiomarmorata. Extracutaneous manifestations were observed in three patients (75%) that included central nervous system involvement in three, bilateral congenital glaucoma in two, and cardiovascular system involvement in one. The molecular basis of phacomatosis pigmentovascularis is yet to be elucidated. Whether the various subtypes of phacomatosis pigmentovascularis are separate molecular entities or phenotypic variants of the same disease needs to be settled.

Leigh's disease in 3 sibs of a Kuwaiti family.

OBJECTIVE AND IMPORTANCE: To describe Leigh's disease in 3 sibs of a Kuwaiti family. CASE PRESENTATION: Two brothers presented in early infancy with progressive neurological symptoms of hypotonia, delayed milestones and brisk reflexes. Investigations revealed metabolic acidosis, high serum and cerebrospinal fluid lactate. Magnetic resonance imaging (MRI) showed characteristic changes of Leigh's disease. The 3rd brother, who was asymptomatic initially, was investigated because of his family history and was found to have similar changes. INTERVENTION: All children developed progressive neurological deterioration and persistent metabolic lactic acidosis, which was treated with sodium bicarbonate, and the 1st patient needed renal dialysis to control the acidosis. The 2nd child was placed on vitamins and carnitine. CONCLUSION: The neurological deterioration was progressive in all 3 sibs, and they eventually died of respiratory failure despite ventilatory support. Since MRI changes are characteristic, MRI should be done to confirm the diagnosis.