Facial cellulitis revealing choreo-acanthocytosis: a case report

Younes, S.; Yosra, Cherif; Bellazreg, F.; Mouna, Aissi; Berriche, O.; Jihed, Souissi; Hammadi, Braham; Frih-Ayed, Mahbouba; Letaief, A.; Habib, Sfar Mohamed

doi:10.11604/pamj.2014.17.322.4085

Cited by 4 publications

(4 citation statements)

References 15 publications

(26 reference statements)

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“…All of the patients described herein with ChAc and VPS13A c.2343del belong to families originating from the island of Djerba, Tunisia. Of interest, we found two case reports of ChAc patients from Tunisia but unfortunately none of those were tested genetically . The identification of the c.2343del mutation in three apparently unrelated ChAc families with origin from the island of Djerba suggests a founder mutation in Jewish Tunisians; this community is known to be ancient and relatively isolated with other founder mutations .…”

Section: Discussionmentioning

confidence: 98%

“…Of interest, we found two case reports of ChAc patients from Tunisia but unfortunately none of those were tested genetically. 24,25 The identification of the c.2343del mutation in three apparently unrelated ChAc families with origin from the island of Djerba suggests a founder mutation in Jewish Tunisians; this community is known to be ancient and relatively isolated with other founder mutations. 26,27 Routine testing for c.2343del in suspected ChAc cases may therefore be worthwhile in this population.…”

Section: Discussionmentioning

confidence: 99%

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Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation

et al. 2016

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Objective: The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. Methods: Genetic test results, clinical description, magnetic resonance imaging (MRI), and electroencephalography (EEG), as well as laboratory results are summarized. Results: ChAc is a rare genetic disorder characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric symptoms, and acanthocytes on peripheral blood smear. This unique cohort of nine patients is characterized by seizures as a first and prominent symptom. In our patients, other features of ChAc appeared later, including tics, other movement disorders, dysarthria, and mild to moderate cognitive decline. Significance: Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Seizures as presenting and prominent symptom in chorea‐acanthocytosis with c.2343del VPS13A gene mutation

et al. 2016

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“…ChAc has been reported from most ethnic groups from many countries, including Brazil [ 25 ], China [ 26 - 28 ], India [ 29 - 31 ], Iran [ 32 ], Israel [ 33 ], Japan [ 10 ], Mexico [ 34 , 35 ], Poland [ 36 ], Saudi Arabia [ 37 ], Slovenia [ 38 ], South Korea [ 39 ], Taiwan [ 40 ], Tunisia [ 41 ], and Turkey [ 42 , 43 ]. The presence of a Japanese founder mutation accounts for the increased incidence in Japan [ 44 ].…”

Section: Chorea-acanthocytosismentioning

confidence: 99%

“…Vocal and motor tics [ 67 ] and obsessive-compulsive symptoms and behaviors can be very functionally limiting. Self-injury [ 41 , 60 ], including tongue-, lip-, cheek- or finger-biting, or throwing the body to the floor, may be behavioral compulsions rather than purely due to a motor disorder [ 68 ]. These symptoms are likely related to degeneration of the head of the caudate nucleus [ 69 , 70 ].…”

Section: Chorea-acanthocytosismentioning

confidence: 99%

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

Walker

2015

JMD

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There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.

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