Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.
Contactin-associated protein-like 2 (CASPR2) autoantibodies are among those associated with several syndromes with effects on both the central and peripheral nervous systems including neuropathy and encephalitis and is most commonly seen in middle-aged to elderly males. We present a case of autoimmune encephalitis in a 14-month-old female presenting with altered mental status, refusal to bear weight, and hypertension in the setting of mercury exposure. This is the youngest reported case of CASPR2/LGI1/VGKC antibody associated autoimmune encephalitis stimulated by mercury exposure.
Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes.
Streptococcus pneumoniae (S. Pneumoniae) is a common cause of bacterial meningitis in the pediatric population, but rarely causes complications such as encephalitis, abscess, and seizures with the prompt initiation of proper antimicrobial therapy. In this report, we present a rare and severe case of S. Pneumoniae meningoencephalitis in a full term 6-month-old which progressed to multiple cerebral and cerebellar infarcts with concomitant cerebellar tonsillar herniation and hypercarbic respiratory failure requiring intubation and mechanical ventilation despite early initiation of antibiotics. Given the patient's clinical status and poor neurological prognosis, the family eventually opted for palliative extubation.
