Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. JaffeCampanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and JCS.
Case report: The 9-year-old Tadzhikistan girl visited our Center to treat her left hypertrophic leg. Her height was under 3 percentile and weight was in 510 percentile. She had incomplete upper eyelids and separated sparse alopecia. She had left hemibody hyperpigmentation and ipsilateral edema of leg. She had 2 years of slow development compare to the same age group. In brain MRI, widening of unilateral ventricular system and extraaxial CSF space of the left hemisphere and posterior fossa were observed. Coarctation of aorta was found by 2D-echocardiogram. Extremity MRI showed a well-defined, elongated cortical bone lesion involving the left proximal humerus with heterogeneous enhancement suggestive of nonossifying fibromata-extraskeletal anomalies, or angiomatosis, and lipomatosis. CT guided biopsy showed suggestive of metaphyseal fibrous defect, focal fatty-vascular tissue proliferation to the bone and suggestive for lipomatosis, fatty tissue proliferation to the soft tissue. To evaluate combined problem, blood test with hormone study was done. Her bone age was 8 years, GH deficiency was noted with insulin and L-Dopa stimulation test. NF1 mutation was not found in her blood and her karyotyping was normal 46, XX.
Conclusion: To reduce her left leg edema, Z plasty on left ankle was done. After operation, her walking was better than before. To improve morphologic anomaly, upper eye lid plasty was done. GH trial could be helpful for her height growth.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology