Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.

Pallister-Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely reported throughout the literature, research on the neurodevelopmental profile has been limited. Case reports make up the majority of the few existing studies regarding the neurodevelopmental phenotype associated with this disorder. The current case report describes a 3-year-old male with Pallister-Killian syndrome (AF), reports the neurodevelopmental evaluation of his unaffected twin brother (MF), and outlines the results of an optical imaging study on both boys. AF presents with severe developmental delays, however, he ambulates with support and engages in conversation using his communication device. Most severely impaired was AF's speech and expressive language, with childhood apraxia of speech (CAS) as a possible explanation for these severe deficits. MF, the sibling, demonstrated neurotypical abilities and often advanced scores for his age. Both subjects completed a functional near-infrared spectroscopy (fNIRS) study, revealing decreased temporal and frontal lobe function in AF and typical functioning in MF. This case report expands on the existing literature on PKS by describing variances in fraternal twin presentation and novel reporting on fNIRS findings in both boys.

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency, is characterized by decreased cortisol and aldosterone synthesis and excessive androgen production. Adult height is often compromised in affected patients. Intellectual capability remains intact in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, based on previous studies. 47,XXY (KS) is a sex chromosomal aneuploidy that manifests with hypergonadotropic hypogonadism, tall stature, and variable intellectual and behavioral dysfunction. This clinical report describes an infant with 21-hydroxylase deficiency congenital adrenal hyperplasia and 47,XXY. The results of his neurodevelopmental, endocrine, neurological, and physical therapy evaluations during his first 22 months are included and were normal. This is the first published case investigating the neurodevelopmental profile of a patient with the combination of these two genetic disorders.