Medical History: The patient has a significant medical history, including developmental delay, hypotonia, dysconjugate gaze, laryngomalacia, undescended right testis (status post orchiopexy), ankyloglossia and upper lip tie (status post repair), gastroesophageal reflux disease, and feeding difficulties.

Clinical Course

• A chest wall mass: At 3 months of age, the patient's mother observed a small mass in the left chest wall, which became more prominent by 8 months of age. A chest X-ray did not reveal a definite expansile left rib lesion. However, an ultrasound identified a mass-like lesion at the costal cartilaginous junction. Subsequent chest wall MRI revealed a bifid 7th rib.
• Developmental concerns: The mother reported significant hypotonia since birth, which became more noticeable with age. A brain MRI, performed due to delayed development and hypotonia, revealed a mixed cystic and solid lesion in the left cerebellar hemisphere, confirming medulloblastoma. A brain CT suggested early calcification of the falx cerebri.

Physical Examination

• Facial dysmorphic features: Broad face, frontal bossing, coarse facial features, hypertelorism, epicanthal folds, broad and depressed nasal bridge, upturned nasal tip, and a transverse chin crease
• Dentition: Two lower teeth, one left upper tooth, and abnormally located teeth emerging in the upper gum
• Chest wall: A small palpable mass (2x1 cm) in the left lower chest wall, nontender to palpation
• Dermatological: Multiple plantar pits, palmar pits, and keratosis
• Neurological: Notable for significant hypotonia, with the patient unable to crawl or sit independently

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Sun Young Kim, MD PhD
Aaron Mochizuki, DO
Chinmayee B Nagaraj, CGC
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, USA

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Categories: Case Quiz