1/79. Congenital hypomyelinating neuropathy: two patients with long-term follow-up.The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases. The authors' first patient presented with neonatal hypotonia and extremely slow nerve conduction velocities. sural nerve biopsy revealed profound hypomyelination, without inflammation or evidence of myelin breakdown. She is now 9 years of age, and her motor function has continued to improve. Follow-up nerve-conduction velocities are unchanged. The authors' second patient presented at 5 months with hypotonia. Nerve-conduction velocities were extremely slow, and sural nerve biopsy revealed severe hypomyelination, with no inflammation or evidence of myelin breakdown. She is now 5 years of age and has also demonstrated improved motor function. Repeated nerve-conduction velocities are unchanged. Both patients have normal cognitive development. Molecular genetic analysis in Patient 2 disclosed a point mutation in the myelin protein zero gene; this same point mutation has been reported in three other patients diagnosed with Dejerine-Sottas syndrome (DSS) but has never been reported in a patient with CHN. Although CHN is a distinct clinical entity, it may share similar genetic features with DSS.- - - - - - - - - - ranking = 1keywords = hypomyelination (Clic here for more details about this article) |
2/79. Neonatal type of nonketotic hyperglycinemia.Two infants with the neonatal type of nonketotic hyperglycinemia that had manifested as early neonatal consciousness disturbance are presented. Transient hyperammonemia had been detected in both initially. High levels of glycine in plasma and cerebrospinal fluid disturb the nervous system, causing variable manifestations of this disease. Both cases were complicated by intracranial hemorrhage, which has never before been reported. After treatment with sodium benzoate and dextromethorphan, some neurologic improvement was observed, although the glycine levels did not lower. Recent clinical trials are reviewed, and because of the unfavorable outcomes, the special need for prenatal diagnosis is highlighted.- - - - - - - - - - ranking = 0.00031856742917014keywords = nervous system (Clic here for more details about this article) |
3/79. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with angelman syndrome caused by an imprinting defect.The clinical features of angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having prader-willi syndrome. dna methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.- - - - - - - - - - ranking = 0.00084077945863479keywords = ataxia (Clic here for more details about this article) |
4/79. Fumaric aciduria: clinical and imaging features.Fumaric aciduria (fumaric acidemia, fumarase deficiency) is a rare inborn error of metabolism caused by deficient activity of fumarate hydratase, one of the constituent enzymes of the Krebs tricarboxylic acid cycle. We describe the clinical and imaging features of this disease arising from a consanguineous pedigree in 8 patients in the southwestern united states. Thirteen patients have been previously described in the medical literature. Our patients presented with an early infantile encephalopathy with profound developmental retardation and hypotonia, and most experienced seizures. Previously unreported characteristics described here include structural brain malformations, dysmorphic facial features, and neonatal polycythemia. magnetic resonance imaging showed multiple abnormalities, including diffuse polymicrogyria, decreased cerebral white matter, large ventricles, and open opercula. Fumaric aciduria should be included in the differential diagnosis of inborn errors of metabolism that cause cerebral malformations and dysmorphic features. The possibility that inborn errors of energy metabolism may cause structural malformations deserves increased recognition.- - - - - - - - - - ranking = 0.0018955753740211keywords = white matter, matter, white (Clic here for more details about this article) |
5/79. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 0.00092172349337993keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/79. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the gtp cyclohydrolase I gene. The patient's father and sister had the same mutation but did not have proximal weakness. gtp cyclohydrolase I deficiency can present with hypotonia and weakness.- - - - - - - - - - ranking = 7.6383658051251E-5keywords = childhood (Clic here for more details about this article) |
7/79. Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1 ) in the lower extremities. magnetic resonance imaging of the head revealed no intracranial abnormalities, including normal cerebral myelination. Nerve conduction study showed absence of motor and sensory action potentials in the hands when the nerves in the upper limbs were stimulated. A motor response could be elicited only in the proximal leg muscles. Needle electromyography study was normal in the proximal limb muscles, but showed active denervation in the distal muscles of the arm and leg. These findings were thought to be consistent with a length-dependent sensorimotor peripheral polyneuropathy of axonal type with greater denervation of the distal muscles. A biopsy of the quadriceps muscle showed mild variability in fiber diameter, but no group typing or group atrophy. The muscle fibers showed no intrinsic abnormalities. biopsy of the sural nerve showed scattered axons with very thin myelin sheaths. There was also a nearly complete loss of large diameter myelinated fibers. No onion bulb formations were noted. These findings were thought to be consistent with congenital hypomyelination neuropathy with a component of axonopathy. DNA analysis for identification of previously characterized mutations in the genes MPZ, PMP22, and EGR2 was negative. Several attempts at extubation failed and the infant became increasingly ventilator-dependent with increasing episodes of desaturation and hypercapnea. He also developed increasing weakness and decreased movement of all extremities. He underwent surgery at 2 months of age for placement of a gastrostomy tube and a tracheostomy. He was discharged from the hospital on a ventilator at 6 months of age. The infant was 13 months old at the time of submission of this report. Although he appears cognitively normal, he remains profoundly hypotonic and is on a home ventilator. There was no evidence of progressive weakness. Congenital hypomyelination neuropathy is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. It appears to be a heterogeneous disorder with some of the cases being caused by specific genetic mutations.- - - - - - - - - - ranking = 3.5keywords = hypomyelination (Clic here for more details about this article) |
8/79. Joubert syndrome with associated corpus callosum agenesis.In 1969, Joubert et al. studied a family where four of six children had a severe clinical condition with episodic alternate hyperpnoea and apnoea, hypotonia, ataxia, psychomotor delay, and abnormal ocular movements. Two of the four had agenesis of the posterior-inferior part of the cerebellar vermis and two had complete agenesis of the vermis. We report a 5-month-old girl with Joubert syndrome in whom MRI shows both features typical of this condition and associated corpus callosum agenesis. To our knowledge, complete callosal agenesis has been infrequently reported in children with Joubert syndrome; consequently, it might be regarded as a casual finding. Nevertheless, the hypothesis of a developmental abnormality of midline structures extended to the supratentorial compartment is rather attractive.- - - - - - - - - - ranking = 0.00084077945863479keywords = ataxia (Clic here for more details about this article) |
9/79. Retinal dystrophy in a Japanese boy harboring the mitochondrial DNA T8993G mutation.BACKGROUND: patients with the mitochondrial (mt) DNA T8993G mutation reportedly have variable neurologic manifestations. In these patients, retinal dystrophies progress from salt-and-pepper appearance to severe diffuse pigmentary retinopathy. CASE: A Japanese boy harboring the mtDNA T8993G mutation had hypotonia, ataxia, and developmental delay. His lactate values in serum and cerebrospinal fluid were elevated. magnetic resonance imaging showed symmetrical areas of T2-weighted hyperintensity in the putamen and caudate. OBSERVATIONS: In ophthalmological examinations, his pupils reacted sluggishly to light. The patient had mottling of the retina without pigmentation and subnormal electroretinographic responses in both fundi. No ophthalmoparesis or nystagmus was observed. CONCLUSION: Retinal dystrophy without pigmentation was found in a Japanese boy diagnosed with the mtDNA T8993G mutation. This is believed to be the first report of retinal manifestations in Japanese patients with this mutation.- - - - - - - - - - ranking = 0.00084077945863479keywords = ataxia (Clic here for more details about this article) |
10/79. Paediatric narcolepsy: complexities of diagnosis.narcolepsy is a sleep disorder that is characterized by excessive daytime sleepiness and the inappropriate intrusion of aspects of rapid eye movement sleep into wakefulness. While the disorder emerges from an interplay of genetic and environmental factors, recent findings suggest that abnormalities in the neurotransmission of hypocretin may be implicated in its pathogenesis. Although narcolepsy has typically been associated with adulthood, there is a growing evidence base for the emergence of the disorder in childhood. We report suspected narcolepsy in early infancy, highlighting both the complexities of presentation and subsequent diagnosis associated with paediatric narcolepsy, and the significant psychosocial difficulties experienced by children and families managing this disorder.- - - - - - - - - - ranking = 7.6383658051251E-5keywords = childhood (Clic here for more details about this article) |
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