Partha S. Ghosh

Cerebral Vasculopathy in Children With Neurofibromatosis Type 1

Cerebral vasculopathy is an important but underrecognized complication of neurofibromatosis type 1. Over a 10-year period, we retrospectively assessed the prevalence, clinical manifestations, management, and outcome of cerebral vasculopathy in children with neurofibromatosis type 1. Magnetic resonance imaging (MRI) of the brain was performed on 78% of the patients (312/398) of which 46% (143/312) had magnetic resonance angiography of the intracranial arteries; 4.8% (15/312) had cerebral vasculopathy. Approximately half were asymptomatic at presentation; none had neurologic deficits. Cerebral vasculopathy included moyamoya changes (7) and stenosis/occlusion of major intracranial arteries (8). On follow-up (mean 4 years), 2 patients developed radiologic progression; 1 was treated with aspirin alone, whereas another underwent revascularization surgery. Although cerebral vasculopathy in neurofibromatosis type 1 may be asymptomatic at presentation, there may be radiologic and clinical progression leading to morbidity and mortality. Magnetic resonance angiography should be considered with brain MRI for early detection and timely intervention of cerebral vasculopathy.

Lateral sinus thrombosis associated with mastoiditis and otitis media in children: a retrospective chart review and review of the literature.

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. All patients received antibiotics for 1 to 8 weeks. Four patients underwent mastoidectomy alone, 5 mastoidectomy with concurrent myringotomy and ventilation tube, and 1 myringotomy with tube without mastoidectomy. Three underwent anticoagulation for 6 months (1 had heterozygous factor V Leiden mutation). All survived; deafness occurred in 5 patients (4 transient, 1 persistent). 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.

Subdural Hematoma in Infants Without Accidental or Nonaccidental Injury Benign External Hydrocephalus, a Risk Factor

Benign external hydrocephalus (BEH) is considered a self-limiting condition in infants. Subdural hematoma (SDH) in infants without a history of trauma indicates nonaccidental injury (NAI). The authors studied whether SDH can complicate BEH without apparent trauma. Out of 45 children younger than 3 years with nontraumatic SDH, 9 (7 boys) with mean age 6 months had BEH as risk factor. Symptoms included increasing head size (8), fussiness, and irritability (3). Three had up-gaze restriction, 1 axial hypotonia, and 6 normal examination. Neuroimaging showed prominent extra-axial spaces; SDH was bilateral (6), subacute (5). Other etiological workup for SDH was negative except NAI in 1. Two required evacuation of SDH and subdural–peritoneal shunt; others managed conservatively. Development was normal in 8 on follow-up. On follow-up imaging of 8, SDH completely resolved in 3, markedly reduced in 3, and remained stable in 2. BEH is a risk factor for SDH in infants, thus not always benign.

Neurological complications following pediatric liver transplant.

Objective: We studied neurological complications (NCs) after liver transplantation (LT) in children. Methods: We performed an institutional review board–approved retrospective review of patients with LT ⩽21 years during a period of 30 years (1980–2010). NCs were classified as early (within 3 months post-LT) and delayed (beyond 3 months post-LT). Results: Of 65 children with LT, 20 (30.7%) had NCs; 16 were girls. Mean age was 11.8 ± 5.9 years. Early NCs were found in 13.8% (9/65) of the patients: seizures in 7 and encephalopathy in 2. Abnormal neuroimaging findings were posterior reversible leukoencephalopathy syndrome (1), intracranial hemorrhage (1), mild cerebral edema (1), and bilateral basal ganglia T1W hyperintensities in magnetic resonance imaging (1). On follow-up, there were 3 deaths (unrelated to NCs). One with intracranial hemorrhage had residual hemiparesis and was taking a long-term antiepileptic drug. Late NCs are found in 16.9% (11/65) of the patients: seizures in 4, headache in 4, encephalopathy in 3 (1 had seizures in addition), and paresthesias caused by possible small-fiber neuropathy in 1. Abnormal neuroimaging findings were hypoxic-ischemic encephalopathy (1), encephalomalacia caused by old hemorrhage (1), and hyperintensity of the posterior periventricular white matter in magnetic resonance imaging (1). On follow-up, all of the patients survived; 1 had papilledema with secondary optic atrophy requiring optic nerve sheath fenestration and 1 needed long-term antiepileptic drug. Conclusions: NCs are common in children after LT, seizures being the most common. In contrary to the previous studies, we found delayed complications more often than early complications. Early detection and appropriate management of NCs is important.

Camptocormia as presenting manifestation of a spectrum of myopathic disorders.

Introduction: Camptocormia is the involuntary flexion of the thoracolumbar spine leading to an abnormal posture. Methods: We retrospectively identified patients with myopathy who manifested with camptocormia and were seen in our neuromuscular clinic. The diagnosis of myopathy was based on myopathic electromyographic changes, often accompanied by 1 or more of the following: elevated creatine kinase (CK); myopathic histopathological findings; and genetic confirmation. Results: Fifty‐two patients were identified; 35 had symptoms limited to camptocormia, but were found to have additional weakness of facial (8 patients), neck (11 patients), and limb muscles (17 patients). CK values were normal or mildly to moderately elevated. MRI/CT of the spine showed paraspinal muscle atrophy and fat replacement. Facioscapulohumeral muscular dystrophy and sporadic inclusion body myositis were the most commonly identified myopathies in this cohort. Conclusions: Despite the difficulty in characterizing the myopathy in patients with camptocormia, a definitive diagnosis was possible in 54% of cases. The pattern of associated extra‐axial weakness may provide clues to the diagnosis. Muscle Nerve 52: 1008–1012, 2015

Hirayama Disease in Children From North America

Hirayama disease has been mainly reported from Asia; only a few cases are from the Western hemisphere, particularly North America. This is a retrospective chart review of patients < 18 years, diagnosed with Hirayama disease from a single center over 10 years. We diagnosed 6 children (4 boys), 15.1 ± 1.2 years of age. Symptom onset was 3 months to 3 years before presentation. All had unilateral or bilateral asymmetric distal upper extremity weakness without objective sensory loss. Oblique amyotrophy and cold paresis were noted in 5. On electromyography, acute-on-chronic denervation was most frequently noted in cervical-8 (C8) and thoracic-1 (T1) myotomes followed by cervical-7 (C7) myotome in both upper limbs, sparing C5–C6 myotomes. Cervical magnetic resonance imaging (MRI) was abnormal in 3. Symptoms progressed over a mean of 16.5 months. Treatment consisted of placement of cervical collar. Heightened awareness of this entity among pediatric neurologists in North America will lead to early diagnosis and intervention, avoiding unnecessary investigations.

Holocord spinal epidural abscess

Spinal epidural abscess is rare in infants and leads to major permanent neurological deficits if the condition is left untreated. Holocord epidural abscess is extremely rare. We report a patient with methicillin-resistant Staphylococcus aureus septicemia presenting with pneumonia, retroperitoneal abscess, and epidural abscess. A 7-month-old previously healthy girl presented with fever, irritability, tachypnea for 4 days and decreased movement of the right lower limb for 1 day. Magnetic resonance imaging of the spine demonstrated an extensive epidural abscess from second cervical to fifth lumbar vertebrae without osteomyelitis or discitis. The epidural abscess was treated with intravenous antibiotics for 6 weeks. At 3 months follow-up, no neurological deficits were present. Only a few case reports of holocord epidural abscess in children have been published. We present a case of conservatively treated holocord spinal abscess in an infant.

Clinical and laboratory findings of 21 patients with radiation-induced myopathy

Background Limited data are available on radiation-induced myopathy (RIM) in adult cancer survivors. Methods We retrospectively reviewed the clinical, electrophysiological, serological, radiological and pathological findings of patients with RIM seen in the neurology clinic over a 11-year period (2002–2013). Results Out of 251 patients with radiotherapy-induced neuromuscular complications, 21 had RIM (11 men and 10 women). Cancers included: Hodgkins lymphoma (13), non-Hodgkins lymphoma (one), pinealoblastoma (one), tongue (two), nasopharyngeal (one), thyroid (one) and testicular cancer (two). Various radiotherapy protocols were used but all patients received neck and upper torso radiation. The mean latency between radiation exposure and onset of RIM was 15 years (range 2–45 years). The most common presentation was head drop (43%) followed by neck pain (38%). Axial (86%) and periscapular (81%) muscle weakness and atrophy were frequent findings. Two patients died in follow-up from hypercapnic respiratory failure secondary to neuromuscular weakness. Serum creatine kinase values were usually normal or slightly elevated. EMG revealed predominantly myopathic changes in the axial and periscapular muscles. Half of the muscle biopsies (6/12) showed myopathic changes; increased connective tissue elements were observed in seven of eight muscle biopsies performed in the irradiated field; and mitochondrial dysfunction in two. Conclusions RIM is a potential long-term neuromuscular adverse effect of radiation exposure in Hodgkins disease and other types of cancer manifesting predominantly as head drop and can be fatal due to neuromuscular respiratory failure. Improved radiotherapy protocols might reduce the risk of RIM and other radiation-induced neuromuscular complications.

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. Initial workup for thunderclap headache to exclude subarachnoid or intracranial hemorrhage, meningitis, pituitary apoplexy, or venous sinus thrombosis was negative. Brain magnetic resonance angiography and cerebral angiography demonstrated bilateral anterior and posterior circulation diffuse, multifocal, vascular irregularities (beading and stenosis) suggestive of underlying vasculopathy or vasculitis. He was started on verapamil. 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.

Deep Brain Stimulation in Children with Dystonia: Experience from a Tertiary Care Center

Objective: To investigate the efficacy and safety of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in children with dystonia. Methods: Retrospective chart review of patients (≤21 years) with dystonia who underwent GPi DBS. Outcome measures were assessed by the Burke-Fahn-Marsden Dystonia Rating (BFMDR) movement and disability scales pre- and post-DBS. Results: Eight patients underwent DBS; mean age of onset was 7.5 ± 4.8 years (7 were male). Mean age at DBS was 14.1 ± 4.6 years. Etiology of dystonia was primary in 6 patients and secondary in 2. There was significant improvement of BFMDR movement as well as BFMDR disability scales in 6 patients with primary dystonia with modest improvement in those scales in 2 patients with secondary dystonia. Hardware-related problems were observed in 2 and infection was noted in 1. Conclusions: GPi DBS is an effective and safe therapy in pediatric patients with primary as well as selected cases of secondary dystonia.