Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature
| العنوان: | Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature |
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| المؤلفون: | Isabel A Snee, Catherine A. Mazzola, Tatiana Sikorskyj |
| المصدر: | Child's Nervous System |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| تدمد: | 1433-0350 0256-7040 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234c7fba61a901bd5fe9bf9432d677adTest https://doi.org/10.1007/s00381-020-04992-xTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....234c7fba61a901bd5fe9bf9432d677ad |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14330350 02567040 |
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