PMID- 22520356
OWN - NLM
STAT- MEDLINE
DCOM- 20120827
LR  - 20120423
IS  - 1873-5150 (Electronic)
IS  - 0887-8994 (Linking)
VI  - 46
IP  - 5
DP  - 2012 May
TI  - Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal 
      ceroid lipofuscinosis.
PG  - 325-8
LID - 10.1016/j.pediatrneurol.2012.02.021 [doi]
AB  - Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is 
      a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme 
      palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more 
      severe atrophy in the cerebral hemispheres than in the cerebellum. The basal 
      ganglia and particularly the thalamus demonstrate low signal intensity on 
      T(2)-weighted images from an early age. We present three patients with 
      PPT1-related neuronal ceroid lipofuscinosis who exhibited isolated, symmetric 
      signal changes in the bilateral dentate nucleus as sole early neuroimaging 
      abnormality. Neither cerebral or cerebellar atrophy nor signal changes in the 
      thalamus/basal ganglia were evident. This neuroimaging finding in PPT1-related 
      neuronal ceroid lipofuscinosis was not previously reported.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Kamate, Mahesh
AU  - Kamate M
AD  - Division of Pediatric Neurology, Department of Pediatrics, Jawaharlal Nehru 
      Medical College, Karnataka Lingayat Society University, Belgaum, Karnataka State, 
      India. drmaheshkamate@gmail.com
FAU - Hattiholi, Virupaxi
AU  - Hattiholi V
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.1.2.22 (palmitoyl-protein thioesterase)
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Electroencephalography
MH  - Family Health
MH  - Humans
MH  - *Magnetic Resonance Imaging
MH  - Male
MH  - Neuronal Ceroid-Lipofuscinoses/*diagnosis/*genetics
MH  - Pons/pathology
MH  - Thalamus
MH  - Thiolester Hydrolases/*genetics
EDAT- 2012/04/24 06:00
MHDA- 2012/08/28 06:00
CRDT- 2012/04/24 06:00
PHST- 2011/12/23 00:00 [received]
PHST- 2012/02/17 00:00 [accepted]
PHST- 2012/04/24 06:00 [entrez]
PHST- 2012/04/24 06:00 [pubmed]
PHST- 2012/08/28 06:00 [medline]
AID - S0887-8994(12)00075-6 [pii]
AID - 10.1016/j.pediatrneurol.2012.02.021 [doi]
PST - ppublish
SO  - Pediatr Neurol. 2012 May;46(5):325-8. doi: 10.1016/j.pediatrneurol.2012.02.021.