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ABSTRACT: PURPOSE: Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients. METHOD: Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. RESULT: Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations. CONCLUSION: We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
Child s Nervous System 09/2012; · 1.54 Impact Factor
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ABSTRACT: Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder. Ocular involvement in SSPE has been well known and might be seen in 42 to 50% of the patients. Visual findings are generally seen at stage III with neurological abnormalities. Ophthalmologic involvement might be preceding typical SSPE symptoms.
Neuropediatrics 04/2012; 43(3):149-51. · 0.94 Impact Factor
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ABSTRACT: Nonconvulsive status epilepticus (NCSE) is a specific form of status epilepticus and is defined as epileptic activity on an EEG without seizures and as an alteration in mental status lasting more than 30min. NCSE may be caused by drugs, cerebrovascular events, metabolic disorders or toxins. Herein, we present four cases of patients with drug-induced NCSE who were chronically ill due to renal failure or childhood leukemia. NCSE should be suspected in patients with an altered mental status without clinical seizures who are being treated with multiple drugs.
Brain & development 03/2012; 34(10):824-8. · 1.74 Impact Factor
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ABSTRACT: .We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography
showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst
in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating
defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were
in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria.
One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated
creatinine clearances. 99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion
in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by 99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated
for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early
stage of disease.
Pediatric Nephrology 12/1996; 11(1):31-35. · 2.52 Impact Factor
