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Clinically, patients present with microcephaly and significant developmental delay. While some patients may be able to walk, others may not due to spasticity of limbs and hypotonic muscle tone, with progressive degeneration over time. Patients may also present with seizures, ranging from single febrile seizure to intractable epilepsy.
Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]
MICPCH is diagnosed following an MRI displaying pontocerebellar hypoplasia and positive genetic testing for a pathogenic or likely-pathogenic mutation of the CASK gene. Initial testing tends to occur following a diagnosis of microcephaly in the first year of life. A diagnostic ICD-10 code has been assigned to MICPCH: Q04.3.
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion; Mental handicap; Agenesis of the corpus callosum, cerebral cysts; Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis. [8] Genetic testing can confirm diagnosis. [5]
The most common symptoms of CNS tumors are headache, vomiting, and nausea. Symptoms vary depending on the tumor and may include unsteady gait, slowed speech, memory loss, loss of hearing and vision, problems with memory, narrowing of visual field, and back pain. Symptoms may also vary greatly between individuals with the same tumor type.
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