1/13. sandhoff disease--a case report of 3 siblings and a review of potential therapies.INTRODUCTION: sandhoff disease is a GM2 gangliosidosis that may present within the first 6 months of life with developmental regression. This is the first report of a pedigree from Southeast asia. CLINICAL PICTURE: All the affected siblings presented in the first year of life with developmental regression, spasticity, seizures and loss of vision. The diagnosis was confirmed by an enzymatic deficiency in both beta-hexosaminidase a and B. CONCLUSION: As the disorder is autosomal recessive, and no curative therapy is currently available, genetic counselling is necessary to prevent the burden of this devastating disease. We review the potential strategies of treatment for sandhoff disease.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/13. "Myelodysplasia," myeloneuropathy, and copper deficiency.We describe a patient with a suspected myelodysplastic syndrome that developed in association with a neurologic disorder resembling subacute combined degeneration but without vitamin B12 deficiency. Ultimately, the hematologic manifestations and the neurologic syndrome were linked to severe copper deficiency. Prompt and complete reversal of the hematologic abnormalities occurred with copper replacement. serum copper determination should be included in the work-up of patients with anemia and leukopenia of unclear etiology who have associated myeloneuropathy. The hematologic picture can resemble sideroblastic anemia or myelodysplastic syndrome. Hyperzincemia can be an accompanying abnormality even without exogenous zinc ingestion. The reason for the copper deficiency may not be evident.- - - - - - - - - - ranking = 7keywords = deficiency (Clic here for more details about this article) |
3/13. ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD oxidoreductase activity.A number of inherited disorders of cornification have been related to abnormal lipid metabolism. In the recessively inherited sjogren-larsson syndrome, defined by the triad of ichthyosis, mental retardation, and spasticity, fatty alcohol:NAD oxidoreductase deficiency has recently been reported. These patients accumulate fatty alcohol in the plasma and cultured fibroblasts. A 19-year-old woman with ichthyosis, mental retardation, and mild spasticity is described in whom fatty alcohol metabolism was normal, as determined by plasma octadecanol level and fibroblast fatty alcohol:NAD oxidoreductase activity. Ultrastructural studies on skin from the patient revealed morphologically abnormal epidermal lamellar bodies, not unlike those seen in neutral lipid storage disease with ichthyosis. We postulate that this patient has a novel neurocutaneous syndrome that may be secondary to abnormal lipid metabolism.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/13. Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile sandhoff disease.During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his ilness, we are reporting an atypical juvenile case of sandhoff disease.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
5/13. glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.Two brothers with a recently described inborn error of metabolism characterized by glyceroluria, hyperglycerolemia, and generalized glycerol kinase deficiency had moderate psychomotor retardation, spasticity, growth failure, a nonspecific myopathy, osteoporosis, and adrenal insufficiency. glycerol kinase activity in leukocytes and cultured fibroblasts was less than 5% of control values. Hepatic and renal tissue obtained at autopsy in one patient had similarly low enzyme activity. Thus the deficiency of glycerol kinase in these patients appears to be generalized and heritable, though the relationship of the clinical phenotype to the enzymatic defect is not yet established.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
6/13. Hypothalamic hypothyroidism causing spastic paraplegia: recovery following thyroid medication.A 63-year-old woman with longstanding spastic paraplegia and neurological evidence of long tract disturbance was found to have hypothyroidism, partial diabetes insipidus, hyperprolactinemia, and gonadotropin deficiency of hypothalamic origin. Replacement therapy with thyroxine and prednisone induced complete remission of the neurological abnormalities. The association of spastic paraplegia with hypothalamic insufficiency has not been reported previously. The possibility of hypothalamic disease should be considered in cases of spastic paraplegia of unknown cause.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/13. Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. "Ketotic hyperglycinemia" was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA carboxylase assay in cultured fibroblasts. The following compounds increased following the load: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 2-ethylhydracrylic acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2-methyl-3-oxovaleric acid, N-tiglylglycine, methylcitric acid and butanone. Small amounts of alloisoleucine appeared in plasma. Propionyl-CoA carboxylase deficiency was suggested by this metabolite pattern and demonstrated in cultured fibroblasts.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
8/13. Partial nadh dehydrogenase defect presenting as spastic cerebral palsy.mitochondrial myopathies are heterogeneous disorders. They may present at any age with a variable clinical course. We report a 6-year-old boy presenting as spastic cerebral palsy for 4 years, then athetotic movements and loss of milestones. He was eventually found to have nadh dehydrogenase deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/13. Positive response to oral divalproex sodium (Depakote) in patients with spasticity and pain.Divalproex sodium (DVS; Depakote) is a commonly used antiepileptic agent that increases the levels of gamma aminobutyric acid. Spasticity from different causes may be due to a deficiency of inhibitory transmitters like gamma aminobutyric acid or an excess of excitatory neurotransmitters. Spasticity also may be accompanied by pain. The authors administered DVS orally for pain and spasticity in three patients with a history of spinal cord injury and one patient with a history of head injury. Three patients had marked improvement in spasticity and pain. One patient, who had some symptomatic improvement in spasticity, could not tolerate DVS because of gastric irritation. In contrast to the side effects of sedation and increased motor weakness associated with antispasticity drugs commonly used, no such side effects were detected with DVS. It is suggested that a possible enhancement by DVS of gamma aminobutyric acid-ergic postsynaptic inhibition of motor reflex arc in the spinal cord may represent a new nonsedating, management approach for spasticity as a result of traumatic spinal cord and head injuries.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/13. A case of adenosine deaminase-negative severe combined immunodeficiency with neurological abnormalities.Presented here is a 17-month-old adenosine deaminase-deficient, severe combined immunodeficient patient with chest symptoms, oral ulcer, neurologic manifestations, head lag, spasticity and developmental delay in motor functions. Antibiotics, systemic antifungal agents, intravenous immunoglobulins and partial exchange transfusions with irradiated fresh red cells were given. No other mode of therapy for adenosine deaminase (ADA) deficiency was available at that time. Amelioration of neurologic manifestations within one month of therapy with irradiated fresh red cell exchange transfusions suggests that these manifestations may have resulted from accumulated toxic metabolites. However, no improvement was seen in the course of infection and oral ulcer, and the patient died of respiratory failure on the 48th day of admission.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
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