Psychiatric Presentations of Treatable IEMs PDF

Psychiatric Presentations of treatable IEMs Ratika’s notes Niemann-Pick C Disorder of impaired cholesterol esterification NPC [NPC1, NPC2, AR] Severe liver/lung disease, upgaze palsy, ataxia, apraxia, seizures, dystonia, dementia Childhood onset: cerebellar ataxia, vertical s...

Psychiatric Presentations of treatable IEMs Ratika’s notes Niemann-Pick C Disorder of impaired cholesterol esterification NPC [NPC1, NPC2, AR] Severe liver/lung disease, upgaze palsy, ataxia, apraxia, seizures, dystonia, dementia Childhood onset: cerebellar ataxia, vertical supranuclear gaze palsy  dystonia, seizures, spasticity Adolescent onset: progressive learning difficulties and/or behavioural dysfunction Adult onset: psychosis, affective disorders Tx: miglustat Reversibly inhibits glycosphingolipid synthesis A face of Niemann-Pick Type C National NPD Foundation Cerebrotendinous Xanthomatosis CYP27A1, AR Cholesterol accumulation in tissues (lipid storage disease) Vomiting/diarrhea in childhood Early cataracts Xanthomas of Achilles tendon, elbow, patella, neck Osteoporosis ID in early 20s with behavioural and personality changes including hallucinations, agitation, depression, even suicidality Pyramidal and/or cerebellar signs in 20s-30s Ix: high plasma and tissue cholestanol Tx: chenodeoxycholic acid Acute Intermittent Porphyria AD, HMBS gene Overproduction of specific heme precursors Clinical features: Features of autism in first decade, typically presents after puberty Triggers: VPA, TCAs, alcohol, estrogens, acetaminophen? Acute, severe, colicky abdo pain + predominant motor neuropathy, dysautonomia Decreased reflexes, seizure May have confusion/hallucinations/delirium Associated with PRES Ix: high urinary porphobilinogen Tx: hematin, glucose, chloroquine Wilson’s disease ATP7B gene, AR Liver disease in adolescence  neuropsych symptoms in 20s Behavioural, affective, schizophrenia-like, cognitive Neuro: asymmetric tremor, dysarthria, ataxia  dystonia, spasticity, seizures Eyes: KF rings (copper deposits) Ix: low serum ceruloplasmin, high 24h urine copper Liver bx shows copper accumulation; genetic testing MRI: hyperintense basal ganglia and thalamus Midbrain panda sign: red nucleus and substantia nigra surrounded by high T2 signal Tx: chelation, penicillamine Wilson’s disease: MRI T2 FLAIR: Giant panda sign Increased midbrain signal Normal (hypointense) red nucleus (yellow arrow), substantia nigra pars reticularis (green arrow), low signal intensity of superior colliculus (white arrow)  Classic Homocysteinemia Homocysteine buildup caused by CBS deficiency, AR Clinical features: Ectopia lentis, skeletal abnormalities, thromboembolism and ID Marfanoid appearance Vascular dementia, depression B6-responsive and B6-nonresponsive phenotypes Uses vitamin B6, B12 and folate as cofactors to remethylate back to methionine, and requires MTHFR enzyme for its metabolism High homocysteine directly toxic to neurons and blood vessels Part of “young stroke work up” Non-IEM psychiatric presentations Infections! HIV Syphilis Genetic 22q11 Approach: Investigating psychiatric presentations (Dr. Wilbur) CBC, lytes, liver enzymes, TSH, tox screen Infectious: syphilis, HIV Autoimmune: ANA, ANCA, ds-DNA IEM screening: ammonia, AAQ, UOA, copper, ceruloplasmin MRI brain Encephalopathy workup if refractory, additional neuro symptoms EEG CSF