Journal of child neurology
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Review Case Reports
Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.
Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical features. ⋯ The boy has a de novo phosphatase and tensin homolog gene mutation. Our patient is the first case described to present a typical Cowden syndrome and autism associated with epilepsy.
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Review Case Reports
Reversible cerebral vasoconstriction syndrome: a rare entity in children presenting with thunderclap headache.
Reversible cerebral vasoconstriction syndrome is characterized by a reversible segmental and multifocal vasoconstriction of cerebral arteries, and severe headaches with or without focal neurologic deficits or seizures. A 15-year-old boy presented with thunderclap headache. He had severe hypertension, although his neurologic examination was normal. ⋯ There was complete reversal of the vascular abnormalities in 6 weeks evident by magnetic resonance angiography, with resolution of headache and normalization of blood pressure. Reversible cerebral vasoconstriction syndrome has been rarely reported in children. This case report highlights the diagnostic dilemma and management of the rare childhood presentation of this condition.
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The authors describe the clinical features and management of lateral sinus thrombosis associated with mastoiditis and otitis media in children. Of 475 patients with mastoiditis and otitis media, 13 (2.7%) had lateral sinus thrombosis identified by magnetic resonance imaging/magnetic resonance venography (n = 11) and angiography (n = 2). Clinical features included headache, vomiting, fever, diplopia, papilledema, sixth nerve palsy, seventh nerve palsy, and unilateral cerebellar ataxia. ⋯ Magnetic resonance imaging/magnetic resonance venography should be obtained in any child with otitis media having features of raised intracranial pressure and/or focal neurodeficits to rule out lateral sinus thrombosis. Antibiotics and mastoidectomy are essential in management. A hypercoagulable state may predispose to lateral sinus thrombosis.
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Review Case Reports
Spontaneous intracranial hypotension in childhood: a case report and review of the literature.
Spontaneous intracranial hypotension results from 1 or more spontaneous spinal cerebrospinal fluid leaks, and generally presents with severe and persisting orthostatic headache. Diagnosis can be difficult as spontaneous intracranial hypotension is very rare in childhood and has a wide spectrum of clinical features and neuroimaging findings. Lumbar autologous epidural blood patch can be helpful for confirmation of diagnosis and symptom relief. We report a 15-year-old female with spontaneous intracranial hypotension who experienced immediate resolution of her symptoms following lumbar autologous epidural blood patch on 2 occasions, and review the literature on this well-recognized but probably underdiagnosed headache syndrome in childhood.