Case Presentation
A 3-year-old female child was presented to the clinic with easy fatigability, gross motor delay, low muscle tone, and flexible pes planus. The parents have had concerns that she appears to have difficulty keeping up with kids her age. The patient is otherwise healthy, growing, and developing normally. The examination was performed and revealed the following; on general examination, the patient was pleasant and cooperative. The head was normocephalic with no dysmorphic features. On the HEENT (head, eyes, ears, nose, and throat) exam, the oropharynx was clear with moist mucous membranes. The neck was supple. A cardiovascular exam revealed strong peripheral pulses with a brisk capillary refill and normal breathing. The abdomen was soft with no palpable masses. Extremities were warm and well perfused. Observational gait analysis showed a heel-toe reciprocating gait with no deviations noted and normal bulk. The tone was mildly reduced throughout. No tremors or other abnormal movements were noted (Tables 1 &2).
An echocardiogram was done and revealed a patent foramen ovale (PFO) with left-to-right shunting (Figure 1). Also, comparative genomic hybridization (CGH) plus single nucleotide polymorphism (SNP) was ordered, and the results demonstrated chromosome 2q37 deletion syndrome. The patient was advised to have 2 sessions and a follow-up echocardiogram for her abnormal motor delay. After one year of physical therapy per week, which improved her hypotonia and gross motor delay.