Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.
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PMID:11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. 1922 35

We report a case of a four-year-old boy with stage 1 Wilms tumour, who developed Vincristine-induced acute life- threatening hyponatremia, which presented as generalized tonic clonic seizures and coma. He was intubated and mechanically ventilated. There were no localizing neurological signs. CSF study showed no cells and CSF proteins were 20 mg%. Electrocardiography, chest X-ray, echocardiography, CT scan and liver function tests were normal. Evaluation of electrolytes and arterial blood gas showed serum sodium of 113 mEq/L with mild metabolic acidosis. Serum osmolality was 260 mOsm/L (normal value 285-295 mOsm/L) and urine osmolality was 625 mOsm/L (normal range 300-900 mOsm/L), urine sodium 280 mEq/d (normal range 100-260 mEq/d), serum potassium, blood urea, blood sugars were normal. Serial blood cultures showed no bacterial growth. Patient was treated with fluid restriction, hypertonic saline (3%) and other supportive care. Patient improved clinically over three days and was extubated on the third day and shifted to the ward on the fifth day.
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PMID:Vincristine-induced acute life-threatening hyponatremia resulting in seizure and coma. 2004 Aug 17

Wilms tumor is found in 1 in 10,000 children and most commonly presents in asymptomatic toddlers whose care givers notice a nontender abdominal mass in the right upper quadrant. This case of Wilms tumor presented as a critically ill eleven-year old with significant tachypnea, dyspnea, vague abdominal pain, intermittent emesis, new onset seizure, metabolic acidosis, and hypoxemia. This is the first case in the literature of Wilms Tumor with cavoatrial involvement and seizure and pulmonary embolism resulting in aggressive resuscitation and treatment. Treatment included anticoagulation, chemotherapy, nephrectomy, and surgical resection of thrombi, followed by adjunctive chemotherapy with pulmonary radiation.
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PMID:Dyspnea, tachycardia, and new onset seizure as a presentation of wilms tumor: a case report. 2485 Nov 88

Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this association, it is suggested to search for dysplastic kidney disease in patients with neurocutaneous disorders.
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PMID:Epidermal nevus syndrome and dysplatic kidney disease. 2514 92

Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa. ADCK4 nephropathy presented during adolescence (median age, 14.1 years) with nephrotic-range proteinuria in 44% of patients and advanced CKD in 46% of patients at time of diagnosis. Renal biopsy specimens uniformly showed FSGS. Whereas 47% and 36% of patients with mutations in WT1 and NPHS2, respectively, progressed to ESRD before 10 years of age, ESRD occurred almost exclusively in the second decade of life in ADCK4 nephropathy. However, CKD progressed much faster during adolescence in ADCK4 than in WT1 and NPHS2 nephropathy, resulting in similar cumulative ESRD rates (>85% for each disorder) in the third decade of life. In conclusion, ADCK4-related glomerulopathy is an important novel differential diagnosis in adolescents with SRNS/FSGS and/or CKD of unknown origin.
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PMID:ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 2596 20

Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosaic variegated aneuploidy (MVA) syndrome, were more variably present. Through functional studies, we show that TRIP13-mutant patient cells have no detectable TRIP13 and have substantial impairment of the spindle assembly checkpoint (SAC), leading to a high rate of chromosome missegregation. Accurate segregation, as well as SAC proficiency, is rescued by restoring TRIP13 function. Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment. MVA due to biallelic CEP57 mutations, or of unknown cause, is not associated with embryonal tumors and cells from these individuals show minimal SAC deficiency. These data provide insights into the complex relationships between aneuploidy and carcinogenesis.
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PMID:Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 2855 59


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