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1.
Ann Med Surg (Lond) ; 75: 103468, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35386810

RESUMO

Very few pediatric cases of arachnoid cyst of ponto-cerebellar angle are described in the literature. Only 4 are described with hearing loss. It is a pathology which poses especially a problem of early diagnosis. In this paper we describe the management of a 16-year-old patient with an arachnoid cyst of the cerebellopontine angle with an isolated auditory deficit that was treated surgically. The follow up was marked by a Full recovery of hearing after surgical treatment. Arachnoid cyst of the cerebellopontine angle is rare in the pediatric population. early surgical management help to increase the chances of recovery.

2.
J Belg Soc Radiol ; 105(1): 37, 2021 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-34164602

RESUMO

This case shows the MRI and CT features of a rare entity, namely arachnoiditis ossificans, which should be recognized in patients with long-standing history of multiple spine surgery.

3.
Case Rep Neurol ; 12(1): 107-113, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32308605

RESUMO

We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism. DARS2 mutation was identified by combining MRI and genetic analysis. Our patient was affected by compound heterozygosity for a pathogenic mutation and a common variant, but with reduced aspartyl-tRNA synthetase activity. Brain and spinal cord magnetic resonance imaging revealed extensive white matter abnormalities; spectroscopy revealed no lactate elevation. A new compound heterozygous DARS2 variant combined with a polymorphism in the other allele in an adult patient with LBSL was identified, resulting in reduced DARS2 activity. This combination is rare and has consequences on how we should consider benign variant polymorphisms in the future.

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