Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. While hematopoietic stem cell transplantation is life saving in type 2, no specific therapy is required for types 1 and 3. Patients with GS types 1 and 3 are very rare. To date, only 2 patients with type 3 and about 20 GS type 1 patients, including the patients described as Elejalde syndrome, have been reported. The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. However, none of these patients' clinical progresses were reported. We described here our two new type 1 and two type 3 patients along with the progresses of our previously diagnosed patients with GS types 1 and 3. Our previous patient with GS type I is alive at age 21 without any other problems except severe mental and motor retardation, patients with type 3 are healthy at ages 21 and 24 years having only pigmentary dilution; silvery gray hair, eye brows, and eyelashes. Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS.
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Deniz
D
Cağdaş
Tuba Turul
TT
Ozgür
Gülten Türkkanı
GT
Asal
Ilhan
I
Tezcan
Ayşe
A
Metin
Nathalie
N
Lambert
Geneiveve
G
de Saint Basile
Ozden
O
Sanal
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D018995:Myosin Heavy Chains / Q000235:genetics; D024701:Myosin Type V / Q000235:genetics; D016116:Piebaldism / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
D048868:Adaptor Proteins, Signal Transducing; C492410:MLPH protein, human; D000075745:rab27 GTP-Binding Proteins; C077511:MYO5A protein, human; D024701:Myosin Type V; C066694:RAB27A protein, human; D018995:Myosin Heavy Chains; D020691:rab GTP-Binding Proteins