Table 1 Timeline of case presentation
From: X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
Timeline | Symptoms and treatment |
|---|---|
Birth | Born at 28 weeks’ gestation: low birth weight with undefined congenital ichthyosis |
Early childhood | Language and gross motor milestones delayed; poor social interaction and restricted play; learning disability and poor academic performance |
Initial presentation at 11 years | Year-long history of epileptic fits and coincident behavioral abnormalities; initial treatment with herbal remedies before consultation with physicians at local hospital. Presented to local hospital with acute symptoms of agitation and unresponsiveness; began to believe that others were watching him. Was seen talking to himself and laughing without reason. Electroencephalograph abnormalities detected and carbamazepine and olanzapine treatment initiated, but ineffective due to poor patient adherence |
One month later | Referred as emergency admission to tertiary hospital with acute psychotic episode (with decline in daily functioning and double incontinence); microcephaly and ichthyosis noted. Three-week treatment with lorazepam initiated |
Three weeks later | Referral to dermatology, genetics, neurology, and child psychiatry clinics. Genetic and biochemical confirmation of steroid sulfatase deficiency (X-linked ichthyosis), and detection of autosomal regions of homozygosity. Normal gross brain structure reported with electroencephalograph abnormalities. Methylprednisolone pulse therapy and immunoglobulin regime initiated to treat suspected encephalitis, but ineffective in treating cognitive symptoms after 5 days. Olanzapine treatment initiated which brought psychiatric symptoms under control after 2 weeks |
Follow-up | No psychotic symptoms evident; patient maintained on olanzapine for 1 year following hospital discharge. Diagnoses of autism spectrum disorder and attention deficit hyperactivity disorder made |