Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: is this early CADASIL?
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Adolescent↗
Biomedical subjects
B P Garg
Publications and source records attributed to B P Garg.
Clinical approach to the child with a large head.
Majority of children has head size that is appropriate for age and gender. But a few have either too small or too large head at birth or may be of postnatal acceleration. Abnormality of head circumferences is determined by brain size, including any malformations and space occupying lesions, cerebrospinal fluid (CSF) and blood volume, presence of subdural fluid and thickness of skull bones and overlying tissue scalp. Macrocephaly is used when the head size exceeds the mean by more than two standard devotions of age and gender. Macrocephaly is seen in association with several cranioskeletal dysplastic conditions.
Body Height↗
LaCrosse viral encephalitis mimics herpes simplex viral encephalitis.
Temporal lobe abnormalities, findings commonly associated with herpes simplex virus encephalitis, were observed in a male 10 years of age found to have LaCrosse virus encephalitis. Diagnostic features included magnetic resonance imaging revealing abnormal signal intensity in the bilateral frontotemporal regions, and left-sided periodic lateralizing epileptiform discharges. LaCrosse virus encephalitis should be included in the differential diagnosis of viral encephalitis associated with structural and electrographic temporal lobe lesions, represented by periodic lateralizing epileptiform discharges. The recently developed LaCrosse RNA polymerase chain reaction for cerebrospinal fluid may enable rapid diagnosis, prevent the need for treatment with acyclovir, and give parents an encouraging prognosis.
Child↗
Tumor-related epilepsy in children.
A 10-year retrospective review of 15 children with cerebral tumors and seizures was conducted to study the factors responsible for delay in the diagnosis of tumors and to assess outcome following surgery. Mean duration of seizures prior to surgery was 37 months. Ninety-three percent had no focal neurologic deficits. Head computed tomography was abnormal in 64%, whereas magnetic resonance imaging was abnormal in all patients. Electroencephalography showed focal abnormalities ipsilateral to the tumor in 73%. There was no surgical mortality. Eighty percent were seizure free or had rare seizures following surgery. Factors contributing to a delayed diagnosis of the brain tumor included a nonfocal neurologic examination and delay in obtaining an appropriate neuroimaging study. We believe that head magnetic resonance imaging should be the investigation of choice in partial epilepsies.
Adolescent↗
Cerebral venous thrombosis in children.
Cerebral venous thrombosis is an important cause of stroke in children. Understanding the natural history of the disease is essential for rational application of new interventions. We retrospectively identified 31 children with cerebral venous thrombosis confirmed by head computed tomography (4 patients) or by magnetic resonance imaging (27 patients). Risk factors, clinical and radiographic features, and neurologic outcomes were analyzed. There were 21 males and 10 females aged 1 day to 13 years (median 14 days). Nineteen (61%) were neonates. The most common risk factors included mastoiditis, persistent pulmonary hypertension, cardiac malformation, and dehydration. The chief clinical features were seizures, fever, respiratory distress, and lethargy. Fifteen patients had infarctions (8 hemorrhagic, 7 ischemic). Protein C and antithrombin III deficiency were the most common coagulopathies among 14 tested patients. On discharge, 11 patients were normal, 17 had residual deficits, and 2 patients died. Twenty-seven patients were followed from 1 month to 12 years (mean 22 months). At follow-up, 11 patients were normal, and 13 patients had development delay. One had residual hemiparesis and cortical visual impairment. Two had other deficits. Neonatal cerebral venous thrombosis is probably more common than previously thought, and outcomes are worse in this group. All children with cerebral venous thrombosis should be tested for coagulation disorders.
Adolescent↗
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases. The authors' first patient presented with neonatal hypotonia and extremely slow nerve conduction velocities. Sural nerve biopsy revealed profound hypomyelination, without inflammation or evidence of myelin breakdown. She is now 9 years of age, and her motor function has continued to improve. Follow-up nerve-conduction velocities are unchanged. The authors' second patient presented at 5 months with hypotonia. Nerve-conduction velocities were extremely slow, and sural nerve biopsy revealed severe hypomyelination, with no inflammation or evidence of myelin breakdown. She is now 5 years of age and has also demonstrated improved motor function. Repeated nerve-conduction velocities are unchanged. Both patients have normal cognitive development. Molecular genetic analysis in Patient 2 disclosed a point mutation in the myelin protein zero gene; this same point mutation has been reported in three other patients diagnosed with Dejerine-Sottas syndrome (DSS) but has never been reported in a patient with CHN. Although CHN is a distinct clinical entity, it may share similar genetic features with DSS.
Biopsy↗
Spontaneous spinal epidural hematoma in children.
Spontaneous spinal epidural hematoma is rare in children. It is usually confined to the dorsal epidural space. Ventral spontaneous spinal epidural hematoma (SSEH) is rarer, with only two previous reports. The authors present three children, two with dorsal and one with ventral spinal epidural hematoma, and review the literature. No etiology of the hematoma was found in the authors' patients and there was no history of trauma. A review of 24 patients of children younger than 18 years of age reported in the literature and the authors' three patients revealed that the cervicothoracic region was the most common site of SSEH, the mode of onset was frequently subacute, and there was no male preponderance as has been reported in adults. We found that the initial symptoms were often nonspecific, leading to a delay in diagnosis, especially in younger children. Follow-up data revealed that 15 of the 27 patients recovered completely, 11 had residual neurologic deficits, and one patient died. Irritability and neck pain with restricted movements of the cervical spine in an afebrile child may be early signs of SSEH and often precede onset of neurologic deficits by several hours to days. These signs should alert the clinician to consider spinal epidural hematoma and the need for urgent magnetic resonance imaging (MRI) of the spine for early diagnosis and treatment to minimize morbidity.
Child, Preschool↗
Acute motor axonal neuropathy in childhood: clinical and MRI findings.
Clinical and radiologic findings in a child with acute motor axonal neuropathy are reported. A 16-year-old boy with mild cerebral palsy presented 1 week after an upper respiratory tract infection with low back pain, ascending weakness, and areflexia. Cerebrospinal fluid (CSF) examination revealed albuminocytological dissociation. Serial electromyograms (EMGs) with nerve conduction velocity (NCV) studies revealed findings of motor axonal neuropathy. Spine MRI revealed enhancement of the cauda equina. Acute motor axonal neuropathy (AMAN) may be an underrecognized cause of acute flaccid paralysis, and to our knowledge no pediatric cases have been reported in the United States. MRI findings have not been reported previously.
Adolescent↗
Subtypes of ischemic stroke in children and young adults.
Specific strategies for primary and secondary stroke prevention in children and young adults can only be recommended once the causes of stroke in these age groups are well described. ICD-9 codes were used to identify children aged 1 to 18 years with acute ischemic stroke. Young adults aged > 18 to 45 years were identified from the Indiana University and Northwestern University Young Adults Stroke Registries. Validated criteria were used to subtype ischemic stroke as atherothrombotic (AT), cardioembolic (CE), small-vessel (SV), other determined cause, or unknown cause. Ninety-two children and 116 young adults were identified. Stroke subtypes in children/young adults (percentages) were as follows: AT 0/16 (p < 0.001), CE 15/14 (p = 1.0), SV 0/3 (p = 0.26), other 49/44 (p = 0.40), and unknown 36/23 (p = 0.04). Children had more prothrombotic causes (25% versus 14%, p = 0.03), and young adults had more dissections (3% versus 15%, p = 0.005). Children aged 15 to 18 years had causes of ischemic stroke more similar to those in young adults. The cause of ischemic stroke is less often identified in children than it is in young adults. Children have more prothrombotic causes of stroke, and adults have more atherothrombotic causes and dissections. Lacunar strokes are rare in both children and young adults. The age of 15 years should be used to separate childhood from young-adult ischemic stroke.
Adolescent↗
[Stroke therapy in children].
OBJECTIVE: To evaluate the treatment modalities used in children (ages 1-18 years) with cerebral infarction. BACKGROUND: [corrected] Cerebrovascular disease in children is more common than once suspected but its treatment has not been rigorously studied. MATERIAL AND METHODS: We reviewed all cases of cerebral infarction at the James Whitcomb Riley Hospital for Children at the Indiana University Medical Center from 01.01.80 to 31.12.95. RESULTS: Ninety-three children who experienced ischemic strokes were followed over the past fifteen years. Fifty-seven males and thirty-six females comprised the sample. Mean age was 6.9 years at the time of stroke. No medication or surgical intervention was the therapeutic recommendation in 44% of patients. For cardioembolic strokes, warfarin was used later in the course for a few patients who went on to have atrial fibrillation or valve replacement. Aspirin was used in all patients with carotid artery dissections. Aspirin was used in most children with Moya-Moya, with calcium channel blockers and surgical intervention used in later cases. Exchange transfusion followed by monthly transfusion and chelation therapy has been the treatment of choice for children with cerebral infarction complicating sickle cell disease. CONCLUSIONS: In most instances, treatment was widely disparate, probably reflecting the lack of firm therapeutic guidelines for this age group, with a better understanding of the etiology and pathophysiology of strokes in children, multicenter, international, randomized therapeutic trials based strictly on an etiological basis should be organized in the future.
Adolescent↗
Increasing irritability with sudden onset of flaccid weakness.
Spontaneous spinal epidural hematoma (SSEH), is a rare and potentially fatal condition that responds favorably to early surgical intervention and should be considered in the differential diagnosis of spinal cord compression. There are few reported cases in children. We present a case of spontaneous spinal epidural hematoma in an 18-month-old child and review the literature.
Hematoma↗
Progressive spasticity in an infant.
A 15-month-old girl with progressive spasticity presented for evaluation of cerebral palsy. Neurological examination revealed severe asymmetric spasticity with normal cranial nerves. Bayley developmental assessment showed a mental age of 12 months and a motor age of 9 months. Magnetic resonance imaging scan of the brain was normal, however a scan of the cervical spine showed an enhancing intramedullary lesion. Surgical exploration revealed an aneurysm which was successfully embolized. The differential diagnosis of cervical cord lesions in infants is discussed.
Brain↗
Vertebral artery compression due to head rotation in thalamic stroke.
Vertebral artery compression from head turning has been described in adults, especially in those who have spondylosis of the spine and osteophytes. There are no reports that demonstrate vertebral artery compression due to head turning in children without vertebral abnormalities. A child is reported with thalamic stroke in whom cerebral arteriography revealed vertebral artery compression on head turning. Blood flow in the vertebral artery, however, could be demonstrated by Doppler ultrasonography with the head in the midline. It is concluded that the vertebral artery is vulnerable to mechanical compression in the neck even in the absence of bony abnormalities.
Cerebrovascular Disorders↗
Clinical correlation of periodic lateralized epileptiform discharges in children.
Fifteen children with periodic lateralized epileptiform discharges are reported and clinical and radiologic features and outcome are presented. Both structural cerebral lesions and metabolic factors were associated with periodic lateralized epileptiform discharges. Although all patients had seizures, 8 had status epilepticus. Seven patients survived and 8 patients died. Six of the 7 survivors had residual seizures. Periodic lateralized epileptiform discharges in children are associated with acute encephalopathies and there is a high incidence of subsequent epilepsy.
Adolescent↗
Spontaneous extracranial carotid artery dissection in children.
Dissection of cerebral arteries as a cause of stroke is rarely recognized in children. Two patients with stroke due to extracranial carotid artery dissection are reported. A 7-year-old girl with a 2-week history of right arm chorea had a left basal ganglia infarct and is receiving haloperidol for persistent chorea. The second patient, a 15-year-old boy, developed aphasia and right hemiparesis a day before admission during a football game without obvious trauma. He had a large left middle cerebral artery infarct and died of cerebral edema and herniation. We believe that strokes due to arterial dissection are more common than currently recognized, partly because of a lack of history of trauma, and suggest that cerebral artery dissection be considered as an etiology of childhood strokes. Greater awareness of arterial dissection as a cause of stroke and availability of noninvasive techniques like magnetic resonance angiography should result in a more accurate diagnosis and improved prognosis in these patients.
Adolescent↗
Ischemic thalamic infarction in children: clinical presentation, etiology, and outcome.
Clinical features of thalamic strokes have not been well delineated in children. Six children with ischemic thalamic infarcts (3 M, 3 F; age range: 21 months to 14 1/2 years) are reported. Three patients had infarction in the thalamoperforate artery territory and all had a decreased level of consciousness and hemiparesis; two of them also had associated ocular motility abnormalities. One patient with left thalamotuberal artery stroke presented with aphasia. Two patients with thalamogeniculate artery infarcts had hemiparesis and involvement of the posterior cerebral artery. Etiologic factors in our patients were: infectious vasculitis, congenital heart disease, migraine, and unknown in 1 patient each and trauma in 2 patients. Follow-up information was available for 5, 4 of whom recovered completely. One patient was left with a neurologic deficit. We conclude that the prognosis of ischemic thalamic strokes in children is relatively good.
Adolescent↗
Acute disseminated encephalomyelitis presenting as a neurodegenerative disease in infancy.
An infant with acute demyelinating encephalomyelitis resulting from California virus infection presented with a neurodegenerative clinical picture. The clinical course was complicated by infantile spasms which responded to treatment with corticotropin. Acute demyelinating encephalomyelitis should be included in the diagnostic evaluation of patients who present with subacute regression of developmental milestones.
Adrenocorticotropic Hormone↗
Strokes in children due to vertebral artery trauma.
Strokes due to vertebral artery lesions are rare in children. We describe three new patients and compare them with the 16 other patients described in the literature. All of these patients are boys. Traumatic vertebral artery lesion at C1-2 level was the most common cause of stroke, and the prognosis for neurologic recovery was good. We suggest that vertebral artery disease be considered in boys with posterior circulation ischemia.
Cerebral Angiography↗