Teen’s acute psychotic disorder leads to Sanfilippo A diagnosis
Case study: Neurological, psychiatric assessment may help ID disease sooner
An adolescent boy was diagnosed with Sanfilippo syndrome type A after the onset of an acute and transient psychotic disorder, according to a case study.
The boy’s recurrent psychotic episodes, marked by rapid behavioral changes, were successfully treated with anti-psychotic medications.
“This study emphasizes the need for [metabolic] evaluation in adolescent patients with acute onset psychiatric symptoms, even in the absence of obvious neurological regression,” researchers wrote.
Case details were described in the study, “Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient,” which was published in European Child & Adolescent Psychiatry.
Teen’s acute psychotic disorder characterized by rapid behavioral changes
An inherited disorder, Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA, is caused by mutations in the SGSH gene, resulting in a deficiency of the N-sulfoglucosamine sulfohydrolase enzyme (SGSH). Without sufficient enzyme activity, the complex sugar molecule heparan sulfate builds up to toxic levels inside cells.
The central nervous system, which comprises the brain and spinal cord, is particularly susceptible to heparan sulfate accumulation, which leads to developmental delays, sleep disturbances, speech loss, and behavioral changes, most notably hyperactivity.
This study reports on a boy who was born into a family with a history of psychiatric disorders. His older brother had a mood disorder, while his mother has a history of migraines and an anxiety disorder. Still, before the onset of Sanfilippo, the boy showed no signs of cognitive or verbal impairment.
During the SARS-CoV-2 pandemic, however, he began to exhibit anxiety and mood swings, which were followed by difficulties in school and social interaction.
At the age of 15, the boy showed significant psychological distress, marked by sleep disturbances, headaches, fatigue, a lack of attention, and learning difficulties. As a result, his primary care physician prescribed a range of vitamins and supplements, along with dietary changes to address mental and physical fatigue.
Careful neurological and psychiatric assessment may enable an earlier diagnosis and a stratification of disease progression in [Sanfilippo syndrome type A], particularly in patients with an attenuated course of the disease showing mild yet progressive cognitive decline.
At this point, the boy underwent metabolic screening, which showed elevated levels of urinary mucopolysaccharides, a class of carbohydrates that includes heparin sulfate. A genetic analysis then revealed mutations in both copies of his SGSH genes, one inherited from each biological parent. Repeated brain MRI scans also showed mild brain wasting.
A diagnosis of Sanfilippo syndrome type A was confirmed when tests showed reduced SGSH enzyme activity in while blood cells. Genetic tests also revealed the patient had an inherited liver condition called Gilbert’s syndrome.
At the same time, the boy received a diagnosis of acute and transient psychotic disorder, characterized by rapid behavioral changes such as reduced consciousness (stupor), restless agitation, and disrupted sleep patterns, which were preceded by headache, fatigue, and attention deficit.
Over a follow-up period of three years, he showed signs of mild yet progressive cognitive decline, marked by a deterioration in verbal communication skills, with escalating social withdrawal and social anxiety. The boy experienced recurrent psychotic episodes that were successfully treated with anti-psychotic drugs.
“Careful neurological and psychiatric assessment may enable an earlier diagnosis and a stratification of disease progression in [Sanfilippo syndrome type A], particularly in patients with an attenuated course of the disease showing mild yet progressive cognitive decline,” the researchers concluded.
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