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agammaglobulinemia/seizures
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Pagina 1 a partire dal 36 risultati
X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.
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We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had
[A case of epilepsy with agammaglobulinemia improved by intravenous immunoglobulin therapy].
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We report a 13-year-old boy having epilepsy with agammaglobulinemia. He developed without neurological deficits until the age of 4 years, when he had convulsive generalized status epilepticus. He suffered from recurrent infections, and the diagnosis of agammaglobulinemia was made at 5 years. At 8
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.
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Over the past decades, a pleiotropic spectrum of B-cell intrinsic defects leading to early onset agammaglobulinemia and absent B cells has been described. Herein we report terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. We describe a 20-year old man with a 1MB terminal 14q32.33
Transition from systemic lupus erythematosus to common variable hypogammaglobulinemia.
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A 34-year-old man had polar extremes of B cell dysfunction: systemic lupus erythematosus evolving into common variable hypogammaglobulinemia. He presented in 1974 with seizures and six other criteria for systemic lupus erythematosus; his antinuclear antibody titer was 1:1024 and IgG level, 2870
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome?
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We report a pair of brothers who have leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. They have significant developmental delay, and brain MRIs demonstrate leukoencephalopathy, characterized by profound
A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.
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Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disorder in which children present with symptomatic adrenocorticotropic hormone (ACTH) deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, called common variable
Diphenylhydantoin-induced hypogammaglobulinemia in a patient infected with human immunodeficiency virus.
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A case is reported of reversible panhypogammaglobulinemia in a human immunodeficiency virus (HIV)-infected patient. Onset and resolution were temporally correlated with initiation and termination, respectively, of diphenylhydantoin therapy for a possible seizure. A rapid alteration in peripheral
Chronic diarrhea and malabsorption due to hypogammaglobulinemia: a report on twelve patients.
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Hypogammaglobulinemic sprue (HGS), which may predispose to infection, is uncommon. Twelve patients (all men; median age 29 years, 15-50) with HGS (4%) of 296 with chronic small bowel diarrhea and malabsorption syndrome (MAS) during a 10-year period were analyzed. Treatment of HGS was delayed due to
Secondary Hypogammaglobulinemia After Rituximab for Neuromyelitis Optica: A Case Report.
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A 17-year-old male with history of neuromyelitis optica and seizures presented to the pulmonology clinic for evaluation of recurrent pneumonias. He had received rituximab for the past 6 years. Over the past 2 years, he experienced four episodes of pneumonia. In between these episodes, he would
[A case of agammaglobulinemia with chronic progressive encephalopathy].
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We report a 21-year-old man with agammaglobulinemia and chronic progressive encephalopathy. The patient was diagnosed as having X-linked agammaglobulinemia at 6 months of age, and gamma globulin supplementation was initiated. He exhibited normal development until he was 11 years old, when he showed
Carbamazepine-induced hypogammaglobulinemia.
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Carbamazepine is used to control seizures. Its common side effects are sleep disorders, anorexia, nausea, vomiting, polydipsia, irritability, ataxia, and diplopia. Involvement of the immune system is rare, and few cases of decreased immunoglobulin levels have been reported. We describe a patient
[A case of hypogammaglobulinemia associated with polyarteritis nodosa presenting a variety of symptoms in childhood].
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A case of polyarteritis nodosa (PN) in childhood involving various organs such as the gastrointestinal tract, skin, CNS, kidneys and liver with hypogammaglobulinemia is reported. This 6 month old girl was admitted to our hospital with vomiting, diarrhea, bloody stools with mucous and weight loss.
[Chronic encephalopathy in patients with sex-linked agammaglobulinemia].
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The clinical and neuroradiological findings of two patients with X-linked agammaglobulinemia, who developed a chronic encephalopathy, are presented. The main neurological manifestations in both patients were: progressive spastic tetraparesis, cortico-subcortical type of dementia and seizures. No
Dermatomyositis-like syndrome in X-linked hypogammaglobulinemia. Case-report and review of the literature.
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A case of dermatomyositis-like syndrome is described in a 19-year-old man with a history of Bruton's hypogammaglobulinemia. Although the patient had central-nervous-system manifestations (seizures), no echovirus was isolated in the cerebrospinal fluid, in contrast to previously reported cases. Data
Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.
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We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia A,
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