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Biomedical subjects

M Di Capua

Publications and source records attributed to M Di Capua.

25 records · Page 2Linked to original sources
PubMed1989

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.

Atrophy↗
PubMedDate not supplied

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.

We report on 2 boys (maternal cousins), with severe congenital ataxia with generalized hypotonia, psychomotor retardation and recurrent bronchopulmonary infections. Later, they developed myoclonic encephalopathy and macular degeneration. Serial brain imaging investigations showed a cyst of the septum pellucidum, persistence of the cavum vergae, corpus callosum and cerebellar vermis hypoplasia without cortical atrophy. In the maternal pedigree, 5 males had recurrent bronchopneumonia associated with severe congenital hypotonia and died during the first years of life. Neurophysiological studies, including nerve conduction velocities, brainstem auditory evoked responses, somatosensory evoked potentials were normal. Electroretinogram showed normal wave morphology. Visual evoked potentials were mildly impaired. Extensive screening for metabolic disease gave normal results. Immunologic investigations showed normal T and B cell number, T cell function and immunoglobulin levels in both patients with a reduced level of IgG2 subclass in one.

Brain Diseases↗
PubMedDate not supplied

Somatosensory evoked potentials in hemimegalencephaly and lissencephaly: anatomo-functional correlations.

Four patients with hemimegalencephaly and four with lissencephaly were studied by median nerve somatosensory evoked potentials. The peripheral conduction velocity and the conduction time between the brachial plexus (Erb's point) and cervical cord were normal in both malformations. In hemimegalencephaly, the cortical components were absent on the malformed hemisphere but normal on the healthy side, whereas in lissencephaly an abnormal, prolonged N20 wave was recorded bilaterally. The difference presumably relates to the absence of normal cortical lamination in hemimegalencephaly and to the presence of a 'four-layered' cortex in lissencephaly.

Brain↗
PubMedDate not supplied

Benign intracranial hypertension in an older child with cystic fibrosis.

Despite having normal height and weight, a 6-year-old girl had frequent bowel movements and slight recurrent chest infections since the age of 4 years and headache for 1 year. The patient appeared healthy, but examination of the ocular fundus revealed papilledema. Cranial computed tomography appeared normal. Lumbar puncture disclosed an elevated opening cerebrospinal fluid pressure, with normal biochemical, cellular, and bacteriologic findings. Laboratory investigations indicated pathologic steatorrhea, elevated electrolytes in 3 sweat tests, and low serum levels of vitamins A and E. The diagnosis of pseudotumor cerebri in a patient with cystic fibrosis was made. After treatment with prednisone (1 mg/kg/day), pancreatic extracts, and vitamin supplements, headache and papilledema resolved and serum vitamin A and E levels subsequently became normal. Older children with cystic fibrosis rarely have benign intracranial hypertension, but when present it is often due to hypervitaminosis during correction of malnutrition. In this child, pseudotumor cerebri and associated hypovitaminosis improved after combined corticosteroid and vitamin treatment.

Child↗