TY - JOUR
T1 - Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky Type) in Oman
AU - Koul, Roshan
AU - Al-Futaisi, Amna
AU - Ganesh, Anuradha
AU - Rangnath Bushnarmuth, Shivayogi
PY - 2007/5
Y1 - 2007/5
N2 - This study was conducted to see the pattern of neuronal ceroid lipofuscinosis in Oman. Eleven children (10 male) with late-infantile neuronal ceroid lipofuscinosis were seen in 5 families. Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. Five children were seen in 1 extended family. All children had onset with seizures except in 1 family. The majority had onset between ages 1 to 4 years. Nine and of the 11 children had onset with myoclonic seizures. Neuroregression and microcephaly were noted in all. All children had brain volume reduction and typical cerebellar atrophy. Ophthalmological examination was abnormal in all. Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis. There is male predominance of 90.1% in this part of the Arab world.
AB - This study was conducted to see the pattern of neuronal ceroid lipofuscinosis in Oman. Eleven children (10 male) with late-infantile neuronal ceroid lipofuscinosis were seen in 5 families. Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. Five children were seen in 1 extended family. All children had onset with seizures except in 1 family. The majority had onset between ages 1 to 4 years. Nine and of the 11 children had onset with myoclonic seizures. Neuroregression and microcephaly were noted in all. All children had brain volume reduction and typical cerebellar atrophy. Ophthalmological examination was abnormal in all. Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis. There is male predominance of 90.1% in this part of the Arab world.
KW - Jansky-Bielschowsky
KW - Neuronal ceroid lipofuscinosis
KW - Seizures
UR - http://www.scopus.com/inward/record.url?scp=34250722724&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34250722724&partnerID=8YFLogxK
U2 - 10.1177/0883073807302613
DO - 10.1177/0883073807302613
M3 - Article
C2 - 17690061
AN - SCOPUS:34250722724
SN - 0883-0738
VL - 22
SP - 555
EP - 559
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 5
ER -