BackgroundKleefstra syndrome (KS) is a rare genetic condition affecting the euchromatic histone methyltransferase 1 (EHMT1) gene, typically presenting with developmental delay, generalized hypotonia, distinctive facial dysmorphisms, and neuropsychiatric anomalies.MethodsWe collected longitudinal magnetic resonance imaging (MRI) data of a child with KS and cerebrospinal fluid (CSF) dissection over 16 years and reviewed the literature focusing on articles reporting MRI findings in KS based on a PubMed search.ResultsAn 18‐year‐old female with KS presented with developmental delay at age 18 months and seizures at age 10 years. At age 23 months, MRI showed ventriculomegaly. Follow‐up MRI nine years later showed CSF dissection from the right lateral ventricle, which progressed similarly in the contralateral side 3 years later and stabilized over time. To date, only 20 articles report MRI findings from 49 patients with KS. The brain imaging findings range from normal (about 25%) to various abnormalities, including ventriculomegaly, white matter signal abnormalities, and dysmorphic corpus callosum and brainstem structures. CSF dissection was not found in any cases with white matter or other abnormalities.ConclusionsCSF dissection may be a rare neuroimaging finding of KS. Its etiology is unclear, but we speculate that epigenetic mutations could indirectly affect the development and integrity of ependymal cell lining along the ventricles. Alternatively, the long‐standing hydrocephalus may have caused the development of pseudodiverticula and subsequent CSF dissection.
Background: Nitrous oxide (N2O) has been an increasingly popular recreational drug over the past few years. Abuse is associated with severe neurological complications and even fatal outcomes. Purpose: Here we present a case of chronic nitric oxide abuse in a teenager presenting with rapidly progressive mixed sensory and motor polyneuropathy. Results: The initial diagnostic workup excluded electrolyte derangement, heavy metal intoxication, autoimmune neuropathy, myopathy, hematological disorders, and thyroid disease. On further questioning, patient reported 8-months of inhalation of nitrous oxide, commonly known as “whippets”. Subsequent tests revealed low Vitamin B12 and elevated homocysteine level. Eventual genetic test demonstrated a heterozygous deletion in the gene that encodes the peripheral myelin protein 22 (PMP22), consistent with a diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). Conclusion: The association of neurologic and genetic findings with the timeline of nitrous oxide inhalation suggests a multifactorial etiology of her symptoms, with the N2O acting as a trigger to the axonal degeneration and demyelination detected on electrodiagnostic studies.
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