Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature.

We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient's clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient's speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

Stage IV Neuroblastoma with Metastatic Spread to the Mandible in a Young Child: Case Report and Review of the Literature.

BACKGROUND: Infants and young children with neuroblastoma (NB) may present with metastases. The primary tumor most commonly originates in the abdomen and metastasizes to lymph nodes, liver, and bone marrow. Infants and young children presenting with multiple skull metastases are rare. METHODS: We present a rare case of a 20-month-old child who presented with metastatic neuroblastoma and multiple skull lesions. The child responded well to induction chemotherapy followed by myeloablative busulfan/melphalan consolidation. RESULTS: The child had substantial tumor reduction after chemotherapy was started. There was a significant decrease in tumor sizes and uptake, as seen in the metaiodobenzylguanidine study. The 6-month follow-up examination showed complete remission, and the remission continues. CONCLUSIONS: Infants and young children with neuroblastoma rarely present with metastatic lesions to the skull. Even large lesions involving the skull base may be successfully treated with chemotherapy. The use of myeloablative busulfan/melphalan consolidation after induction chemotherapy can decrease the overall metastatic tumor burden. Craniofacial specialists should be aware of treatment options for these young children.