TY - JOUR
T1 - Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
AU - Tsai, Anne Chun Hui
AU - Morel, Chantal F.
AU - Scharer, Gunter
AU - Yang, Michael
AU - Lerner-Ellis, Jordan P.
AU - Rosenblatt, David S.
AU - Thomas, Janet A.
PY - 2007/10/15
Y1 - 2007/10/15
N2 - We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed.
AB - We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed.
KW - Cobalamin C
KW - Homocystinuria
KW - Methylmalonic aciduria
KW - Myelopathy
KW - Neuropsychiatric disease
KW - Thrombosis
KW - Vitamin B
KW - cblC
UR - http://www.scopus.com/inward/record.url?scp=34848912854&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34848912854&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31932
DO - 10.1002/ajmg.a.31932
M3 - Article
C2 - 17853453
AN - SCOPUS:34848912854
SN - 1552-4825
VL - 143
SP - 2430
EP - 2434
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 20
ER -