Griscelli syndrome: Report of a case and review of the literature

Griscelli syndrome and electroencephalography pattern

“…Pigment dilution of hair, skin, eyelashes and eyebrows, immunologic and neurologic abnormalities associated with hepatosplenomegaly and recurrent infections are the general features of GS 8 .…”

“…Griscelli and Prunieras 1 , in the first description of the syndrome, did not described any neurologic manifestations. Latter, many authors reported the presence of seizures, intracranial hypertension, hemiparesis, facial palsy, hypotonia, psychomotor and language delay, progressive neurologic deterioration, cerebellar signs and spasticity [4][5][6][7][8][9][10][11][12] . According to Malhotra et al 3 severe neurologic abnormalities are common in GS type 1 and may be absent in GS type 2.…”

“…The diagnosis of GS is established by the combination of clinical presentation, characteristic light and electron microscopic findings and the absence of giant granules in leukocytes 8 . Microscopic examination of hair reveals clusters of aggregated melanin pigment, accumulated mainly in the medullary area 5 .…”

“…Finally, GS 3 presents as hypopigmentation in the hair and skin without another findings and is related to a mutation in the 2q37.3 chromossome [4][5][6][7] . The diagnosis is frequently made between 4 months and 7 years of age, with a 6-week-old patient being the youngest case reported 8 . The main syndromes that should be considered in the differential diagnosis are Chediak-Higashi and Elejalde syndrome.…”

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

“…As mentioned above, GS is a very rare disease, with about 30 cases reported over the past 20 years; [1][2][3][4][7][8][9][10][11] it is usually fatal within the first few years of life, due to HLH, which in most cases is triggered by common infections. We report a new case of GS in an Italian child cured after HSCT from a matched unrelated donor.…”