Biomedical subjects
Publications and source records attributed to E Bertini.
We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.
We report on a family segregating the myotonic dystrophy (DM) gene and a t(5;8) reciprocal translocation. The DM presented the characteristics typically seen in this disease, i.e. full penetrance, broad expressivity, apparent anticipation in successive generations, presence of a congenital form transmitted by a carrier mother. The family was uninformative for linkage studies with the Lutheran and Secretor loci. The concordance between DM and chromosome translocation in 8 out of 9 individuals at risk was apparently due to chance.
Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atrophy. The third patient showed very peculiar morphological changes on a muscle biopsy specimen resembling a vacuolar myopathy, which is rarely described in association with the rigid spine syndrome. The importance of an adequate investigation of the rigid spine syndrome and the recognition of the presence or absence of cardiomyopathy, if there is to be correct genetic counselling, is discussed.
We determined in normal nonpregnant (group I) and normal pregnant (group II) women and in patients with preeclampsia (group III): (1) immunoglobulins and complement C3b associated with polymorphonuclear leukocytes and platelet surfaces in an attempt to evaluate the interaction in vivo of immune complexes with the membranes of these cells; (2) the occurrence of circulating immune complexes; (3) the serum levels of immunoglobulins, C3, and C4; and (4) the plasma levels of complement C3d. In patients with preeclampsia (group III), the percentages of polymorphonuclear leukocytes and platelets positive for membrane-bound IgG, IgM, IgA, and C3 were significantly higher than the percentages in groups I and II. In group III, there also was a significant increase in circulating immune complexes, as compared to groups I and II. However, circulating immune complexes were also present in significant amounts in normal pregnancy (group II). The plasma levels of complement C3d were markedly increased in the most severe cases of preeclampsia.
We report the case of a child with congenital neuromuscular disease characterized by neonatal onset of symptoms, a floppy syndrome with marked weakness of facial muscles, palsy of the velum pendulum and hypomotility of the esophagus. EMG was inconclusive. Serum enzyme levels were within the normal range. Muscle biopsy specimen showed uniform type 1 fibers, smallness of the occasionally observed type 2 fibers and slight ultrastructural changes in many fibers. On the basis of the clinical and morphological features we have included the present case among the group of non-progressive congenital neuromuscular diseases.
Explore the source record for details and available documents.
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.
We observed 4 children with hemimegalencephaly, (3 boys, 1 girl aged 3-7 years). One child had a linear sebaceous nevus. All patients had a similar clinical, EEG, and neuroradiologic pattern. All patients had macrocrania, hemiparesis, hemianopsia, and psychomotor retardation of variable degree. All cases had an epileptic syndrome with onset during the first days or the first months of life. The seizures were consistently similar: partial motor seizures, generally hemiclonic and asymmetric brief tonic seizures, in series, involving predominantly one side of the body, contralateral to the cerebral damage. The EEG was initially characterized by a hemihypsarrhythmia and afterward, over the malformed hemisphere, by a rather high-frequency background activity associated with almost continuous transients of spikes, sharp waves, and spike and waves that progressively involved the contralateral hemisphere. Hemispherectomy was performed in two children with sudden and complete recovery from seizures and improvement in psychomotor development. Macroscopic examination was consistent with the computed tomography (CT) scan and magnetic resonance imaging (MRI) showing pachygyria and poorly represented white matter. Histologic examination showed the characteristic absence of cortical neuronal layering, and the presence of giant neurons, neuronal heterotopias, and gliosis. For hemispherectomy to be successful, we believe prolonged EEG monitoring is needed to verify that no seizures are originating in the normal hemisphere.
Congenital ataxia is not a rare condition for who is involved in the practice of pediatric neurology. After a brief description on the normal development of the cerebellum, we present an extensive review on the neurological disorders due to malformations or metabolic disorders associated with hypoplasia of the cerebellum and congenital ataxia.
A case of congenital diaphragmatic paralysis is reported in an infant who died because of respiratory failure at the age of 5 weeks. The histologic findings show a dystrophy-like muscle pathology restricted to the diaphragm with a normal somatic peripheral musculature and normal phrenic nervous structures. The previous death of a male sibling because of diaphragmatic eventration suggests that this case of diaphragmatic paralysis could have been a consequence of a partial and random hypoplasia of muscle fibers, mimicking an isolated muscle dystrophy of the diaphragm.
Explore the source record for details and available documents.
A psychotic episode is described in a 21 year old male suffering since the age of 14 of generalized convulsions and tipical absences, scarecely controlled by antiepileptic drugs. The psychotic episode took place after a "Petit Mal Status", and was characterized by behaviour disorders, psycomotor excitement and delusions. During the episode the EEG became normal and epileptic seizures were not observed. Treatment with neuroleptics was followed by reduction of psychic disturbances.