Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature
| Autor: | Isabel A Snee, Catherine A. Mazzola, Tatiana Sikorskyj |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
Klippel-Trenaunay-Weber Syndrome medicine.medical_specialty Neurology Klippel-Trenaunay syndrome medicine.medical_treatment Case Report 03 medical and health sciences 0302 clinical medicine medicine Tissue and bone overgrowth Humans Foramen Magnum Child Hemihypertrophy Foramen magnum medicine.diagnostic_test business.industry Laminectomy Magnetic resonance imaging General Medicine medicine.disease Magnetic Resonance Imaging Syringomyelia Chiari I malformation Port-wine stain birthmarks Arnold-Chiari Malformation medicine.anatomical_structure 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Speech delay Venous malformations Neurology (clinical) Radiology medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Child's Nervous System |
| ISSN: | 1433-0350 0256-7040 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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