Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature

Alsugair, Faisal; Jadkareem, Dalia; Alhazmi, Rami; Alhaidey, Ali

doi:10.1016/j.radcr.2020.09.005

Cited by 2 publications

(2 citation statements)

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“…Griscelli syndrome (GS) is an autosomal recessive disorder characterized by hypopigmentation, immunodeficiency, and neurological features [1]. The syndrome was first described in 1978 [2]. Only 150 cases have been reported to date, with a higher prevalence in Mediterranean countries such as Turkey [2][3].…”

Section: Introductionmentioning

confidence: 99%

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Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion

Ortíz

Ruxmohan

Alzamora

et al. 2021

Cureus

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Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis.We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The patient had an MYO5A mutation and, remarkably, a deletion on 18p11.32p11.31. The deletion was previously reported in a patient with refractory seizures and developmental delay. We reviewed all cases of GS that presented with seizures. We reviewed other cases of GS and seizures described in the literature and explored possible seizure mechanisms in GS. Seizure in GS1 seems to be related directly to the MYO5A mutation.The neurological manifestations in GS2 seem to be caused indirectly by the accelerated phase of Hemophagocytic syndrome (HPS), which is characteristic of GS2. By having the MYO5A gene mutation combined with the 18p11.32p11.31 deletion, the prognosis and severity of the patient's condition are poor. This is the first report of GS1 with a deletion in 18p11.32p11.31.

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Section: Introductionmentioning

confidence: 99%

“…The syndrome was first described in 1978 [2]. Only 150 cases have been reported to date, with a higher prevalence in Mediterranean countries such as Turkey [2][3]. GS usually manifests from four months to four years, but other studies have reported a range from one month to eight years [2].…”

Section: Introductionmentioning

confidence: 99%