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A Novel Method: Super-selective Adrenal Venous Sampling

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Published on: September 15, 2017

Mania with Aarskog-Scott syndrome.

Raghavendra B Nayak¹, L Ambika, G S Bhogale

¹Departments of Psychiatry, JN Medical College, KLE University, Belgaum, Karnataka, India. rbn.psych@gmail.com

Indian Pediatrics

|May 9, 2012

Summary

Aarskog-Scott syndrome, an X-linked disorder, presented in a 10-year-old boy with behavioral issues. This case highlights the first documented instance of Aarskog-Scott syndrome co-occurring with mania.

Area of Science:

Genetics
Pediatrics
Psychiatry

Background:

Aarskog-Scott syndrome is a rare X-linked genetic disorder primarily affecting males, characterized by distinctive facial features, short stature, and developmental abnormalities.
Behavioral and psychiatric manifestations are not typically primary features of Aarskog-Scott syndrome, though developmental delays are common.

Purpose of the Study:

To report a unique case of Aarskog-Scott syndrome in a pediatric patient presenting with significant behavioral and psychiatric symptoms.
To discuss the potential co-occurrence of mania in individuals with Aarskog-Scott syndrome.

Main Methods:

Case report detailing the clinical presentation, physical examination findings, and diagnostic evaluations of a 10-year-old male patient.
Review of relevant literature on Aarskog-Scott syndrome and associated psychiatric comorbidities.

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Main Results:

The patient exhibited characteristic physical features of Aarskog-Scott syndrome.
He presented with severe behavioral issues including temper tantrums, demanding behavior, grandiose ideas, and assaultive tendencies, alongside tobacco abuse.
Diagnoses included global developmental delay, attention deficit hyperactivity disorder, and mania, representing a novel combination with Aarskog-Scott syndrome.

Conclusions:

This case represents the first reported instance of Aarskog-Scott syndrome associated with mania.
The findings suggest a potential, though unestablished, link between Aarskog-Scott syndrome and specific psychiatric conditions like mania.
Further research is warranted to explore the neurobiological underpinnings and prevalence of psychiatric comorbidities in Aarskog-Scott syndrome.