Caroline Bredthauer, BA
Medical Student
New York Medical College
New York, New York, United States
Bruno Alonso, MD
Resident Doctor PGY-2
New York Medical College
NEW YORK, New York, United States
Mohammad S. Islam, MD
Attending Doctor
New York Medical College/ Metropolitan Hospital
New York, New York, United States
PTEN-Hamartoma Tumor Syndrome
Case Description:
A 7 year old M with PMHx of PTEN-Hamartoma Tumor Syndrome (PHTS), PTEN-related macrocephaly, autism, presenting with left foot plantar pain and bilateral pes planus. Plantar pain was typically worst in the morning and would resolve throughout the day. Patient was able to ambulate without difficulty. Of note, patient was delayed in all his physical milestones, including delayed upright sitting, crawling, and walking.
On exam, patient with bilateral pes planus and calcaneovalgus deformity with no tenderness to the left plantar region. Gait was otherwise grossly normal. Patient was scheduled to begin physical therapy for pes planus/plantar fasciitis and to reassess after therapy sessions to consider orthotics.
Discussions:
PHTS is a rare genetic disorder involving mutations of the PTEN gene. The clinical picture of this disorder involves a wide range of potential manifestations, including hamartomatous tumor growth, macrocephaly, autism, and physical and mental developmental delay. Muscular hypotonia has been reported in these patients, and physical therapy established as a potential treatment option. Physical therapy and orthotics for pes planus and plantar fasciitis in the PHTS patient population has not previously been formally assessed.
Conclusions:
Physical therapy has previously been noted to improve muscular hypotonia in PHTS patients, and may also be helpful for pes planus and plantar fasciitis in these patients. Further assessment regarding the efficacy of physical therapy and orthotics is required.
