Brent Fogel, DO
Resident Physician
Nassau University Medical Center
East Meadow, New York, United States
Chi Lam Kwok, DO
Resident Physician
Nassau University medical center
Rego park, New York, United States
Forrest Butensky, DO
Resident Physician
Nassau University Medical Center
East Meadow, New York, United States
Justin Wang, MD
Resident Physician
Nassau University Medical Center
East Meadow, New York, United States
Rachel Quint, MS
Medical Student
American University of the Caribbean School of Medicine
East Meadow, New York, United States
Adam Isaacson, MD
Program Director. Department of Physical Medicine and Rehabilitation
Nassau University Medical Center
East Meadow, New York, United States
A 4-month-old male with a history of prematurity, transient congenital hyperinsulinism, carnitine deficiency, and a genetic deletion on chromosome 10 is being followed for developmental delay and hypotonia. The baby was born prematurely and experienced hypoketotic hypoglycemia requiring NICU care. Genetic testing revealed a deletion of 10q23.2q24.31 gene, which is likely contributing to his developmental delays, including hypotonia and delayed head control. The baby is showing some improvement in muscle strength but continues to intermittent bilateral exotropia. An MRI of the brain showed a nonspecific 6 mm choroid plexus cyst at the left lateral ventricle, potentially associated with chromosomal abnormalities.
Discussions:
Deletions of the 10q23.2q24.31 gene are rare. There is limited data available on the prevalence. The successful rehabilitation of a child with a complex chromosomal disorder requires a multidisciplinary approach involving various healthcare professionals, including physiatrist, pediatrician, neurologist, geneticist, ophthalmologist, physical therapist, occupational therapist, speech-language pathologist, and nutritionist. Early intervention, individualized treatment, and a focus on functional goals are essential. Children with chromosomal disorders are at increased risk for developing secondary conditions such as orthopedic, respiratory and feeding issues. Regular monitoring is essential. Strong family support, and ongoing assessment are crucial for optimizing the child's development and quality of life.
Conclusions:
A 4-month-old boy with a deletion on chromosome 10 (10q23.2q24 deletion), is showing progress in his development, despite ongoing challenges such as hypotonia and intermittent exotropia. His condition is complex, requiring a multidisciplinary team approach. While the patient has made strides in areas like head control and muscle strength, it's important to continue supporting his development through targeted interventions and addressing potential secondary conditions. Family involvement and support are crucial for optimizing the child's outcomes and ensuring a positive quality of life.
