Journal of child neurology
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The purpose of this case report is to review the management of a boy with Lesch-Nyhan syndrome with deep-brain stimulation who had remission of self-injurious behaviors as a result. This patient was treated with intrathecal baclofen and, later, with deep-brain stimulation to reduce hypertonia. ⋯ Deep-brain stimulation was initiated 2.5 years ago, and since that time, comfort and function have improved and caregiver burden has decreased. Improvements in dystonia with deep-brain stimulation have also occurred, and self-injurious behaviors have resolved.
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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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A 10-year-old girl presented with progressive proximal limb muscle weakness without facial, ocular, or bulbar muscle involvement. There was no fatigability or diurnal fluctuation in symptoms. Her weakness worsened with febrile illnesses and recovered with accruing disabilities over a few weeks. ⋯ A significant decrement on repetitive nerve stimulation test and positive response to therapeutic neostigmine challenge test confirmed the diagnosis of limb-girdle myasthenia. She responded well to corticosteroids and thymectomy, demonstrating a likely autoimmune etiology. This case highlights the long-term fluctuations in a case of myasthenia gravis and the need for a high index of suspicion for myasthenia in children presenting with unexplained muscle weakness, even in the absence of typical features such as fatigability, diurnal fluctuation, and oculobulbar weakness.
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Case Reports
Spontaneous resolution of atraumatic intrauterine ping-pong fractures in newborns delivered by cesarean section.
Two cases of spontaneous intrauterine ping-pong fractures are reported in newborns delivered by cesarean section. Skull fractures occurred with no evidence of extrinsic trauma or cephalopelvic disproportion. ⋯ These 2 cases demonstrate that, even without complicated spontaneous vaginal delivery or history of external trauma, congenital ping-pong fracture of the skull can occur. The existence of this clinical condition and its spontaneous resolution is important knowledge that can assist in the prepartum and postpartum management of children with this pathology.