Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old, right-handed girl started to have seizures at age 1 year 4 months. She developed normally until age 4 when she had worsening of seizures with auditory verbal agnosia, complete aphasia, and a behavioral disorder fulfilling the diagnostic criteria of autism. Medical therapy failed. MRI revealed a right temporal tumor. Video/EEG monitoring at age 7 showed contralateral electrical status epilepticus in wakefulness and sleep and ipsilateral onset of seizures. Resection (ganglioglioma with excessive inflammation) resulted in seizure freedom and marked reduction of the autistic features. This case is unique for being, to our knowledge, (1) the first in which a lesion located in the right, rather than left, temporal lobe resulted in secondary falsely localizing left temporal lobe electrical status epilepticus with a clinical picture of Landau-Kleffner syndrome and autism, and (2) the fourth reported patient with lesional Landau-Kleffner syndrome to respond to resective surgery.
 ...
PMID:A child with refractory complex partial seizures, right temporal ganglioglioma, contralateral continuous electrical status epilepticus, and a secondary Landau-Kleffner autistic syndrome. 1860 26

Malignant rhabdoid tumors (MRTs) are rare pediatric malignancies characterized by clinically aggressive lesions that typically show loss of SMARCB1 expression. We herein describe a case of a malignant rhabdoid tumor of the bladder in a 14-year-old male with an autism spectrum disorder and a de novo 3 Mb germline deletion in chromosome band 22q11.2 that included the SMARCB1 gene. The malignancy developed in the setting of chronic hematuria (>2 years) following the occurrence of two other lesions: a central nervous system ganglioglioma and an intraoral dermoid cyst. MRTs of the bladder are exceedingly rare, and this patient is the oldest child reported with this tumor to date. This case adds to the growing body of literature regarding the recently described, phenotypically diverse, distal 22q11.2 syndrome. Furthermore, this is the first reported case in which an MRT of the bladder appears to have developed from a pre-existing bladder lesion. Finally, this case further supports a rhabdoid tumorigenesis model in which heterozygous loss of SMARCB1 predisposes to initial tumor formation with intact SMARCB1 expression, with subsequent inactivation of the other SMARCB1 allele, which results in transformation into more malignant lesions.
...
PMID:Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion. 2501 28