Contributed by Jacob Smith, MD., Sarangarajan Ranganathan, MD.
A teenage boy with recently diagnosed Alström syndrome presents for direct admission for coordinated care among multiple subspecialties. His diagnosis was made via whole exome sequencing that revealed a novel homozygous disease-causing mutation in the ALMS1 gene. No other pathologic or likely pathologic variants were detected. His parents are first degree relatives. A previously performed single nucleotide polymorphism (SNP) array demonstrated homozygosity of 30%. His past medical history is extensive and includes the following: failure to thrive, oblong facies, recession of hair, sunken eyes, prominent ears, retained primary teeth, persistent proteinuria, hepatic steatosis, hypothyroidism, short stature, hyperlipidemia, developmental delay, intellectual disability, autistic-spectrum disorder, progressive retinal dystrophy, sensorineural hearing loss, undescended testes, allergies, lung infections, elevated IgE, asthma, and eosinophilic esophagitis. During admission, he underwent a liver and renal biopsy for evaluation of Alström syndrome.