Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.
Krishnamoorthy
Kalpathy S
KS
Division of Pediatric Neurology, Massachusetts General Hospital, USA.
Eichler
Florian S
FS
Goyal
Namita A
NA
Small
Juan E
JE
Snuderl
Matija
M
D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis; D002547:Cerebral Palsy / Q000175:diagnosis; D002658:Developmental Disabilities / Q000209:etiology; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D005698:Galactosylceramidase / Q000097:blood* / Q000172:deficiency; D006801:Humans; D007223:Infant; D007508:Irritable Mood; D007965:Leukodystrophy, Globoid Cell / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009122:Muscle Hypertonia / Q000209:etiology; D009431:Neural Conduction / Q000502:physiology; D011247:Pregnancy; D011248:Pregnancy Complications; D019966:Substance-Related Disorders
D005698:Galactosylceramidase