1/20. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of ponto-cerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all. Early and progressive bulbar involvement with swallowing difficulties and stridor was also a common feature in these infants. Severe cognitive delay was invariably present. Brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 1keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
2/20. arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol.We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.- - - - - - - - - - ranking = 0.0044926952862309keywords = atrophy (Clic here for more details about this article) |
3/20. misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis.We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis. All 15 patients had growth retardation, underdeveloped bones, short feet with equinovarus, rigidity of several joints with skin dimples and webs, decreased movement of legs stemming from neurologic impairment, bilateral symmetrical hypoplasia or atrophy of limb muscles, and absent tendon reflexes. Of the 15 patients, five had upper limb deformities in addition to lower limb involvement, and one had spinal cord disruption leading secondarily to segmental sensory loss and neurogenic bladder and bowel. Electroneuromyography of five patients indicated that the abnormalities were of neurogenic origin and suggestive of anterior horn cell defects. All of their mothers took 400-4,800 mcg of misoprostol orally or vaginally at 8 to 12 weeks of pregnancy. Our observations support a previously stated caution with regard to the embryotoxicity of misoprostol.- - - - - - - - - - ranking = 0.0044926952862309keywords = atrophy (Clic here for more details about this article) |
4/20. Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy.Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty.- - - - - - - - - - ranking = 3.9820292188551keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
5/20. Congenital cervical spinal atrophy: an intrauterine hypoxic insult.We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper extremities. There was no sensory or bulbar symptom. electromyography showed polyphasic and fast-firing units in the proximal muscles of the upper extremities. With the evidence of chronic denervation and re-innervation, we speculate that this static condition is most likely due to circulatory insufficiency causing anterior horn cell ischemia during the latter part of the first trimester.- - - - - - - - - - ranking = 0.022463476431154keywords = atrophy (Clic here for more details about this article) |
6/20. Congenital caudal spinal atrophy: a case report.An infant presented at birth with symmetrical flaccid paraparesis limited to lower legs and feet, and involving the proximal and distal muscle group. Limitation of the ankle joints was noticed. There were no sensory deficits to painful stimuli and no evidence of loss of sphincter control. Muscle CT revealed severe muscle atrophy in the pelvis and lower limbs, and electromyographic study of the bilateral hamstrings showed polyphasic giant potentials. Motor and sensory nerve conduction velocities were within normal limits, and the spinal MRI showed no structural abnormalities in the cord and the lower spine. These features suggest a congenital segmental abnormality at the anterior horn cell level in the lumbosacral spinal cord, which we propose to call "congenital caudal spinal atrophy".- - - - - - - - - - ranking = 0.026956171717385keywords = atrophy (Clic here for more details about this article) |
7/20. Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles.In 3 infants with arthrogryposis multiplex congenital (AMC) complete necropsy, including removal of the entire spinal cord, was performed. Histologically, spinal type (neurogenic) atrophy of skeletal muscles in conjunction with spinal motor neurone depletion, unaccompanied by noticeable gliosis, were the most preminent features common to all cases. In addition to these, one infant (Case 1) showed total absence of muscle spindles as evident from the examination of several hundred step-serial paraffin sections covering 11 different levels in 36 samples taken from a wide range of skeletal muscles of both upper and lower extremities. This is believed to be the first published case of agenesis of muscle spindles.- - - - - - - - - - ranking = 0.0044926952862309keywords = atrophy (Clic here for more details about this article) |
8/20. Severe lethal spinal muscular atrophy variant with arthrogryposis.Spinal muscular atrophies are a clinically and genetically heterogeneous group of disorders. Atypical forms of the disease have also been described, including those with associated sensory deficits, hearing loss, cerebellar hypoplasia, congenital heart defects, arthrogryposis, and bone fractures at birth. The patient described here is a male infant, born to a 30-year-old mother at 34 weeks of gestation complicated with polyhydramnios. The first son of consanguineous parents had died with the same clinical features. The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyly, and left femur fracture. A muscle biopsy revealed variation in fiber size with occasional hypertrophic fibers. The postmortem examination revealed loss and degeneration of anterior horn cells. We propose that the patient, who presented with severe hypotonia, femur fracture, arthrogryposis, dysmorphic features, history of early death of his brother with the same clinical features and parental consanguinity, had probable X-linked spinal muscular atrophy. However, autosomal-recessive inheritance can not be completely excluded.- - - - - - - - - - ranking = 2.4887682617844keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
9/20. The spectrum of type III lissencephaly: a clinicopathological update.A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described by our group as a new entity identified as OMIM 601160. This lethal familial syndrome comprises micrencephaly/lissencephaly and a spectrum of abnormalities lined to a severe fetal akinesia deformation sequence. Neuropathological findings suggest severe neurodegeneration leading to a marked neuronal dropout of the entire central nervous system and atrophy. Similar neuropathological findings have been described in the Neu-Laxova syndrome (NLS), an apparently different lethal malformation syndrome. Neuropathological similarities between OMIM 601160 and NLS raise the question of clinicopathological variability and genetic heterogeneity of type III lissencephaly. To answer this question, we compared our clinicopathological findings in a series of fetuses with OMIM 601160 to pathological data reported in NLS. In the study, 5 unrelated families with 7 affected fetuses were included. Interestingly, we found striking clinicopathological similarities between OMIM 601160 and NLS, which may represent a variability of a single neurodegenerative disease with early prenatal onset. Molecular studies in multiplex families defined through detailed clinicopathological screening are needed to clarify the distinction, if any, between these two entities.- - - - - - - - - - ranking = 0.0044926952862309keywords = atrophy (Clic here for more details about this article) |
10/20. Two cases of fetal akinesia/hypokinesia sequence.Two cases of fetal akinesia sequence are described. Both showed facial anomalies, arthrogryposis multiplex, bilateral camptodactyly, and pulmonary hypoplasia. One child had degeneration of large motor neurons of the thoracolumbosacral spinal cord and irregular atrophy of diaphragm; the other had left microphthalmia, hemiatrophy of the left temporal lobe with calcification of degenerated neurons, and hypoplasia of the cervothoracic spinal cord with decrease and degeneration of neurons. The iliopsoas and intercostal muscles showed focal myofiber atrophy. These findings suggested that some instances of this fetal akinesia syndrome might be due to neuromuscular dysfunction that occurred in utero and may have various causes.- - - - - - - - - - ranking = 0.013478085858693keywords = atrophy (Clic here for more details about this article) |
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