Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ectopic recurrence of craniopharyngioma 17 years after initial diagnosis is exceedingly rare in pediatric neuro-oncology. Only 23 cases of ectopic recurrence in children with craniopharyngioma are described in the literature with a median time to recurrence of 3 years. We describe a patient diagnosed at 5 years of age, presenting with neck pain and ataxia 17 years after diagnosis. Her original follow-up care was fragmented and included surveillance imaging for 10 years after surgery and endocrine management of panhypopituitarism. Rare, extremely late relapse of this tumor highlights the importance of extended multidisciplinary follow-up care that includes neuro-oncologists in a late-effects/survivorship program.
 ...
PMID:A rare case of ectopic recurrence of a craniopharyngioma diagnosed 17 years after initial presentation. 2160 26

Paradichlorobenzene (PDB) is an aromatic compound found in several household insect repellents and deodorizers. Paradichlorobenzene may cause dependence and damage when inhaled or ingested. Prior cases of PDB neurotoxicity involved ingestion or inhalation of mothballs or occupational exposure. We report the first case of PDB neurotoxicity from chronic toilet bowl deodorizers ("toilet cake") sniffing. A 19-year-old woman, 4 weeks postpartum, presented with gradual mental status deterioration, lethargy, and general weakness for 2 weeks. On physical examination, the patient was found to have a strong odor of deodorizer and diffuse hyperpigmented skin lesions, with scratch marks in neck, axillae, trunk, and 4 limbs. She was alert but unable to communicate or follow commands. Ataxia, hyporeflexia, cogwheel rigidity, and decreased muscle tone were also noted. Laboratory tests revealed only normocytic anemia. A brain magnetic resonance imaging scan showed enhancement within the splenium of the corpus callosum. Postpartum depression, psychosis, and panhypopituitarism were excluded. Family members reported on further questioning that the patient was a habitual "toilet cake" sniffer for an unknown period. A urine test for 2,5-dichlorophenol (a PDB metabolite) level was 620 mg/L (3100 times higher than the average concentration with household exposure). Her clinical condition and body odor remained unchanged during the 30-day hospitalization and the skin findings improved.
...
PMID:"Toilet cake" encephalopathy. 2518 76

The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.
 ...
PMID:AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM. 3020 65