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. 2021 Apr 10;13(4):e14402. doi: 10.7759/cureus.14402

Table 3. Reported cases of Griscelli syndrome with seizures.

Author, year Type of GS, age, sex Clinical Features 1) Age of onset, 2) treatment, 3) Outcome. MRI findings
Russ et al 2019 [11]  Griscelli Type 2, 1 year, female. Status epilepticus, encephalitis, oculocutaneous albinism, pancytopenia, hypertriglyceridemia, developed hemophagocytic lymph histiocytosis at year one. Three months. Status epilepticus related to Influenza. She was treated with levetiracetam, oxcarbazepine, and fosphenytoin. A year later, she continued to have refractory epilepsy. Hyperintensities of the corona radiata and periventricular white matter.
Masri et al, 2008 [1] Griscelli type 2, 6 years, male Developmental delay, silver-gray hair, bronze color skin, generalized hypotonia, anemia. Six years old. No treatment discuss. Focal seizures related to a fever of unknown origin. Two weeks later, he develops generalized tonic-clonic seizures; The patient died because of rapid neurological deterioration. MRI showed white and grey matter involvement and periventricular hyperintensities.
Saini et al, 2014 [12] Griscelli type 2, 3 years, male. Silvery-gray hair, spastic quadriparesis, hyperreflexia, hepatosplenomegaly, abnormally pigmented skin. Three years old. Not treatment discuss. Focal seizures related to a viral process that caused an altered level of consciousness.  Hyperintensities in the cerebellar hemisphere and splenium of the corpus callosum.
Cagdas et al, 2012 [13] Griscelli type 1, 7 months, male Silver-gray hair, developmental delay, hypotonia, lack of head control Seven months. Currently, at age four, his seizures are well-controlled with carbamazepine and clonazepam. He was experiencing seizures for four months. EEG showed frequent sharp waves in the left hemisphere. Seizures were difficult to control. Normal MRI reported at 1.5 years.
Sahu et al, 2017 [14] Griscelli type 2, 11 months, male.  Silver-grey hair, increased tone, pancytopenia Convulsion since he had 18 days of life. No treatment discussed. The patient died two months after the onset of symptoms  Multiple hyperdense foci in the white matter of the left hemisphere; Cortical and subcortical hyperintense lesions on MRI.
Ashrafi et al, 2006 [10] Griscelli type 2, 6 years, male  Silvery-gray hair, decreased level of consciousness, seizure disorder, fever. Six years old. No treatment discussed. He had seizures and subsequent stupor with tonic-clonic seizures. The patient died 12 days after admission, due to an accelerated phase of hemophagocytic syndrome. There are frontal, cortical, and subcortical lesions; white matter lesions in the periventricular areas. Also, there is hyperintensity in the upper pons, quadrigeminal plate, upper pons, bilateral caudate, lentiform nucleus, and splenium of the corpus callosum.
Panigrani et al. 2015 [15] Griscelli type 2, 1 year, female Silvery-gray hair, hepatosplenomegaly, normal WBC. One year old. She was treated with phenytoin, levetiracetam, valproate, midazolam infusion. Status epilepticus remained refractory until receiving ketamine. Left frontal seizures and status epilepticus. It was very difficult to stop the convulsions. She continued to have intractable seizures and died on day 14 of hospitalization. On T2/Flair: No hyperintensities in the periventricular area, cerebellar hemispheres, and white matter.
Alva-Moncayo et al, 2003 [16] Griscelli, 16 months, male, most probably Griscelli type 2 Developmental delay, silver-grey hair, pancytopenia, and hepatosplenomegaly. 16 months of age. No treatment discussed. Generalized, tonic and refractory seizures that progressed to a vegetative state. MRI showed diffuse white matter demyelination, mainly in the bilateral frontotemporal area; a biopsy of the skin showed hyperpigmentation with accumulations of melanin.
Dinakar et al, 2003 [17] Griscelli, 6 years, female, most probably Griscelli type 2 Anasarca, jaundice, splenomegaly, silver-grey hair, horizontal nystagmus, retinal pigmentation, generalized hypertonia, hyperreflexia, and pancytopenia. Her IQ is 67. She also has a regression of milestones since age four. Seizures started at age two. No treatment discussed. CT scan showed a Dandy-Walker cyst.
Thomas et al, 2009 [4] Griscelli type 1, 2 years, male Silver-grey hair, hypotonia, developmental delay. Two years old. No treatment discussed. Multiple seizures, despite multiple medications. The seizures remained difficult to manage. Small atrophic cerebellum.
Griscelli type 1, 2 months, female Silver grey hair, hypotonia, motor delay. Two months old. Treatment not discussed. EEG showed a hypsarrhythmia pattern. Information not available.
Elmaksoud et al, 2020 [18] Griscelli type 1, 7 months, male Silvery-grey hair and eyebrows, developmental delay, hypotonia. Seven months old. No treatment discussed. Seizures control with multiple medications. The other sibling has GS1 but did not have any seizure. Bilateral symmetrical widening of the Sylvian fissure.