Pediatrics
Erica Kwong, MD
Resident Physician
NYU Langone
Forest Hills, New York, United States
Hannah Park, DO
Resident
NYU Langone
New York, New York, United States
Doris Descorbeth, DO
Resident Physician
NYU Langone
Flushing, New York, United States
Patricia Tan, MD
Assistant Professor
New York University
Garden City, New York, United States
Erica Kwong, BA
Albert Einstein College of Medicine
Forest Hills, New York, United States
A 7-year-old and 8-year-old boy presented with infantile neuroaxonal dystrophy (INAD). Born to consanguineous parents of Pakistani descent, both initially met developmental milestones before showing signs of delay between 14 to 15 months. They were enrolled in PT/OT/SLP services at school, underwent brain MRI revealing cerebellar atrophy, and genetic testing confirmed homozygous mutations in the PLA2G6 gene, consistent with INAD.
Clinically, both boys display similar symptoms, but the younger brother is more severely affected. They exhibit expressive and receptive language difficulties and spastic tetraplegia, for which the younger brother takes diazepam. They use bilateral ankle-foot orthoses, nighttime knee immobilizers, and wrist-hand splints to prevent contractures. Furthermore, they were evaluated by PT/OT for standers and wheelchair modifications to improve their function. While the older brother tolerates soft solids and thickened liquids, the younger brother requires a PEG tube due to more severe dysphagia.
Discussions: INAD is a rare, autosomal recessive disorder belonging to a group of conditions known as PLA2G6-associated neurodegeneration (PLAN). Onset typically occurs between 6 months and 2 years of age with early symptoms such as hypotonia, developmental delay, and functional regression. As the disease progresses, patients may develop spasticity, seizures, vision impairment, and cognitive decline. Unfortunately, there is no cure for this genetic condition. This case highlights the typical clinical course of INAD, while demonstrating variability even among siblings with the same mutation.
Conclusions:
Early referral to pediatric rehabilitation is essential, as symptom management is the mainstay of INAD treatment. Physiatric care helps to optimize function, delay complications, and support developmental needs. A multidisciplinary team including family, neurology, orthopedics, genetics, and even school therapists is important to address this complex disease. Comprehensive treatment can significantly improve quality of life and provide hope for both patients with INAD and their caregivers.
