Griscelli syndrome type 1: a report of two cases and review of the literature

“…Making the differential diagnosis of these three syndromes could be challenging. Table 2 showed the main differences among these three disorders [4,[7][8][9].…”

Section: Discussionmentioning

confidence: 99%

“…Two genes on chromosome 15q21, Ras-related protein Rab-27A (RAB27A) and Myosin-Va (MYO5A), are the cause of GS [1]. GS type 1 (GS1) presents with partial albinism and neurological features while GS type 2 (GS2) presents with partial albinism and immunodeficiency [4]. GS type 3 (GS3) is caused by a mutation in chromosome 2q37.1, which encodes melanophilin; the disease is usually benign [1].…”

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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“…A defect in transfer of melanosomes from melanocytes to keratinocytes is a feature shared between all three types of GS . There is no absolute treatment for type 1 and 3 , but the sole way to cure patients with Griscelli syndrome type 2 (GS‐2) is HSCT . Specific symptoms of GS‐2 are frequent pyogenic infections, fever, neutropenia, and thrombocytopenia .…”

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confidence: 99%

Hematopoietic stem cell transplantation with a reduced‐intensity conditioning regimen in pediatric patients withGriscelli syndrome type 2

Hamidieh

Pourpak

Yari

et al. 2013

Pediatric Transplantation

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Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of transplantation with RIC regimen in five patients. The median age at transplantation was 21.6 months (range: 12-30). All of the patients underwent HSCT from HLA-matched related donors. Currently, four patients are cured, and symptoms of recurrent infections and HLH crisis are not seen in them. The only patient who died had undergone HSCT in the accelerated phase of HLH. One patient who developed acute GvHD had a favorable response to therapy. No chronic GvHD occurred in patients. It seems that the use of RIC regimen as a method of transplant preparation is effective and tolerable in this group of patients with various comorbidities. It is recommended to carry out HSCT in these patients at lower ages, before presentations of different infections and HLH crisis.

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Griscelli syndrome type 1: a report of two cases and review of the literature

Cited by 13 publications

References 12 publications

Dendritic spine actin cytoskeleton in autism spectrum disorder

Dendritic spine actin cytoskeleton in autism spectrum disorder

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

Hematopoietic stem cell transplantation with a reduced‐intensity conditioning regimen in pediatric patients withGriscelli syndrome type 2

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