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At least 37 records · Page 2Linked to original sources
PubMed1976

The long-term prognosis infantile spasms--the present condition of cases of infantile spasms followed in school age.

A follow-up study has been made of 25 cases with infantile spasms, all of whom were six years old or more at review. Only four (16%) out of 25 cases made a full recovery and attended normal school. Spasms ceased in 96% of all cases, but fits other than spasms (grand mal, tonic seizure, atonic seizure, myoclonic seizure, atypical absence and psychomotor seizure) occurred subsequently in 11 cases (44%). The EEG became normal in two cases (8%), but still showed modified hypsarhythmia in three cases (12%), "epileptic non-hypsarhythmic" discharges in 17 cases (68%) and non-specific abnormalities in three cases (12%). The important factors associated with good prognosis were normal development before the onset of spasms, late onset (seven months old or over) and short duration of spasms, the absence of other types of fit following spasms and lack of neurological abnormality. A bad prognosis was associated with abnormal development prior to the onset of spasms, early onset and long duration of spasms, the presence of other types of fit following spasms and evidence of any neyrological abnormality This follow-up may confirm that the therapy with ACTH-A has no significant effect on final mental state.

Adolescent↗
PubMed2006

A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

Alexander Disease↗
PubMed1977

Acute infantile motor unit disorder. Infantile botulism?

Eight infants with an acute reversible motor unit disorder are described, including two infants from whom Clostridum botulinum type A was isolated from stool specimens. The clinical spectrum includes constipation, cranial nerve deficits, pupillary involvement, and generalized hypotonic weakness. There were no deaths, and all infants have had complete clinical recovery. A characteristic electromyographic (EMG) pattern was present in part until clinical recovery. This distinctive pattern consisted of brief, small, abundant for power exerted motor unit potentials. This EMG pattern in the context of the clinical syndrome may well be diagnostic for acute infantile motor unit disorder.

Acute Disease↗
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

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disease that results from deficiency of palmitoyl-protein thioesterase-1 (PPT1). INCL leads to retinal blindness, neurodegeneration, and early death. We studied the clinical features and electroretinogram (ERG) in three patients and histopathologic and immunofluorescence analyses of the retina in the third patient, who died at 3 years 2 months of age. The ERGs for the 2 youngest patients (ages 1.7 and 2.3 years) showed normal scotopic bright flash a-wave amplitudes with severe loss of b-wave (electronegative ERG), indicating dysfunction at or proximal to the photoreceptor inner segments. The third patient at 2.9 years of age showed subnormal a-wave amplitudes and even greater loss of b-wave amplitudes. Histopathology revealed reduced cell numbers in all retinal layers, including the inner nuclear layer (INL), and a central epiretinal membrane. Autofluorescent lipofuscin granules were present in all neuronal cell types in the retina. Cones and rods in the parafoveal area were labeled with a cone cytoplasmic marker, mAb 7G6, and anti-rhodopsin, respectively, and had extremely short outer segments. The periphery showed better preservation but photoreceptor outer segments were short. Immunofluorescence revealed degenerate rods and cones throughout the retina with better preservation in the periphery. Autofluorescent lipofuscin was found in all cell types, including cone inner segments, to a greater degree than seen in normal ageing. The ERG findings support the existence early in the disease of a relative pre- or post-synaptic block of effective neurotransmission from photoreceptor inner segments to the second order bipolar neurons.

Child, Preschool↗
PubMed1999

Prevalence of systemic and ocular disease in infantile exotropia: comparison with infantile esotropia.

OBJECTIVE: Exotropia in infancy is believed to be associated with an increased prevalence of neurologic, ocular, and craniofacial abnormalities; however, the prevalence of coexisting ocular and systemic disease in these patients is unknown. In this study, the prevalence of ocular disease and systemic illness was determined in patients diagnosed with exotropia in infancy. DESIGN: Observational comparative case series. PARTICIPANTS: Medical records of 70 patients diagnosed with exotropia in the first year of life were reviewed and compared with records of 136 patients diagnosed with esotropia before 1 year of age. INTERVENTION: Patients with no disorders (other than latent nystagmus, dissociated vertical deviation, or oblique muscle overaction) were grouped as "simple" strabismus. Patients with systemic disorders (including prematurity, neurologic disease, and genetic disease) and patients with ocular disorders (including congenital nystagmus, other strabismus, ptosis, and any condition associated with loss of vision [except amblyopia]) were grouped as "complex" strabismus. MAIN OUTCOME MEASURES: Prevalence of coexisting systemic and ocular disorders. The demographics, strabismus measurements, and types of coexisting disease in the simple and complex groups were compared. RESULTS: A high percentage of both exotropia (67%) and esotropia (49%) patients had a coexisting ocular or systemic abnormality. Exotropia patients with a constant strabismus were more likely to have coexisting ocular or systemic disease than those with an intermittent strabismus. Smaller angles of exotropia or esotropia were associated with a higher likelihood of coexisting ocular or systemic diseases. Systemic disorders were found more frequently than ocular disorders in both the exotropia and esotropia groups. In 25% of all patients referred for evaluation of strabismus, an additional ocular or systemic abnormality was discovered by the ophthalmologist. CONCLUSION: Patients presenting to a university hospital-based practice in the first year of life with exotropia were more likely than those presenting with esotropia to have coexisting ocular and systemic disease. Both groups had a notably high prevalence of associated disorders. The percentages measured in this population may not be applicable to other practices because of referral bias. However, clinicians should consider that children presenting with infantile exotropia and esotropia appear to be at risk for coexisting ocular or systemic disease.

Baltimore↗
PubMedDate not supplied

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.

Female↗
PubMed1978

[Alterations in two enzymes: superoxide dismutase and glutathion peroxidase in developmental infantile psychosis (infantile autism) (author's transl)].

After they gave a classification of the different circumstances under which the infantile autism can exist, the authors expose the data of their researches on the intermediate metabolism of oxygen of those children. Superoxyde dismutase I and glutathion peroxydase activities seem to be abnormal in the erythrocytes whereas only superoxyde dismutase I activity appears to be abnormal in the platelets.

Adolescent↗
PubMed1993

Infantile neuroaxonal dystrophy--immunohistochemical and ultrastructural studies on the central and peripheral nervous systems in infantile neuroaxonal dystrophy.

We performed pathological studies on the central and peripheral nervous systems of cases with infantile neuroaxonal dystrophy (INAD). Numerous spheroid bodies in the central and peripheral nervous systems, were seen and divided into large spheroid bodies (LSB) and small spheroid bodies (SSB) photo-microscopically. LSB had a relation to some specific neurons with weak expression of neuron specific enolase, neurofilament and chromogranin using PAP method. SSB showed a relation to the axon without immunohistochemical expression of neuron specific enolase, neurofilament, glial fibrillary acidic protein, myelin basic protein, chromogranin, S 100 protein or antitrypsin. LSB were prominent in the posterior column, gracile nucleus, cuneate nucleus, and the tegmentum of the midbrain and the pons associated with neuronal loss and gliosis. SSB were observed in the thalamus, basal ganglia and the cerebral cortex. The cerebellum was sclerotic with few microtubule-like structures disposed in a dense network in association with degenerated mitochondria. Similar changes were observed in the sural nerves, autonomic nerve endings in the skin, and the nerve plexus of the digestive tract. Although INAD is a generalized neurodegenerative disease, it is suggested that the primary disorder might occur in the neurons and axons of the sensory tracts.

Axons↗