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- 저자 : Kerkeni, Yosra (검색결과 3 건)
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Intestinal duplication revealed by posterior reversible encephalopathy syndrome
Kerkeni, Yosra,Louati, Hela,Hamzaoui, Mourad The Korean Pediatric Society 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.4
We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst, and the mass was resected. The postoperative course was uneventful. Both hypertension and neurological dysfunction resolved after the mass resection. A follow-up brain magnetic resonance imaging was performed 9 months later and showed complete resolution of the cerebellar changes. Although extrinsic compression of the retroperitoneal structures has not been reported in the literature as a complication of duplication cyst, we strongly believe that this is the most logical and plausible hypothesis that would explain the pathogenesis of PRES in our patient.
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Intestinal duplication revealed by posterior reversible encephalopathy syndrome
Yosra Kerkeni,Hela Louati,Mourad Hamzaoui 대한소아청소년과학회 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.4
We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst, and the mass was resected. The postoperative course was uneventful. Both hypertension and neurological dysfunction resolved after the mass resection. A followup brain magnetic resonance imaging was performed 9 months later and showed complete resolution of the cerebellar changes. Although extrinsic compression of the retroperitoneal structures has not been reported in the literature as a complication of duplication cyst, we strongly believe that this is the most logical and plausible hypothesis that would explain the pathogenesis of PRES in our patient.
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Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
Nesrine Kerkeni,Maher Kharrat,Faouzi Maazoul,Hela Boudabous,Ridha M’rad,Mediha Trabelsi 대한신경과학회 2022 Journal of Clinical Neurology Vol.18 No.2
Background and Purpose Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. Here we present the clinical and genetic characterization of a consanguineous Tunisian family with a WARBM phenotype presenting two pathogenic variations, one of which is on RAB3GAP1. Methods We applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype. Results We reveal a new variation in RAB3GAP1 (NM_012233.3: c.297del, p.Gln99fs) and another variation in ABCD1 (NM_000033: c.896A>G, p.His299Arg). Each of these mutations, which in silico predictions concluded as being pathogenic variations, affects a critical protein region. Both affected males presented a WARBM-compatible phenotype, with severe intellectual disability, severe developmental delay, postnatal growth delay, postnatal microcephaly, congenital bilateral cataracts, general hypotonia, and a thin corpus callosum without a splenium. However, intrafamilial clinical heterogeneity was present, since only the oldest child had large ears, microphthalmia, foot deformities, and a genital anomaly, and only the youngest child had microcornea. Despite the mutation identified in ABCD1, our patients did not have any Xlinked symptoms of adrenoleukodystrophy disorder that are usually caused by ABCD1 mutations, which prompted our interest in clinical monitoring. Conclusions WES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in RAB3GAP1 (NM_012233.3: c.297del, p.Gln99fs) that is most likely pathogenic and allowed us to confirm the diagnosis of WARBM.
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