Peripheral neuropathy in the first 2 years of life: diagnostic evaluation including molecular genetics.

Inherited polyneuropathies present in the first 2 years of life are discussed with emphasis on clinical, pathologic, and molecular data. Early-onset polyneuropathies are relatively rare, sometimes life-threatening conditions that demand early recognition by clinical and pathologic examination. Histologic and ultrastructural overlaps among the various conditions are sometimes resolved by molecular genetic analysis. The growth in disease identification by genetic localization allows a more comprehensive understanding of the clinical and morphologic heterogeneity involving rearrangements of the same gene. Molecular mechanisms explaining the acquisition of such gene rearrangements are beginning to be unraveled. Peripheral myelin disorders may be confused with primary axonal disorders, and electrophysiologic examination often helps to distinguish between these two. Furthermore, early-onset central nervous system disorders may present as peripheral polyneuropathies and confound the clinical picture. A tentative diagnosis can often be offered by pathologic examination and confirmed by biochemical enzyme analysis later. The differential clinical diagnostic considerations of early-onset polyneuropathies are offered, to help clinicians sort out these diseases in the most efficient manner.

Predicting outcome in hypoxic-ischemic brain injury.

Predicting the neurologic outcome of children after a hypoxic-ischemic event continues to be a challenge for intensivists and pediatric neurologists. Nevertheless, with accurate history taking, serial neurologic examination, and some ancillary studies, the clinician can predict accurately whether a child will die or have profound neurologic damage. Aggressive resuscitation should be offered to all children when found in CPA. A simple ingestion might have led to this clinical scenario, and complete neurologic recovery may be possible if effective resuscitation is implemented. In cases of drowning, several factors, if present, are consistent with profound neurologic sequelae or death. These include prolonged submersions with asystole, delayed onset of CPR, no spontaneous respirations on arrival to the emergency department, and low initial pH value. The options of withdrawal of life support or a DNR status should be offered to families of children who have survived a devastating hypoxic-ischemic event but who are in a PVS. If brain-death criteria have been fulfilled, the patient must then be disconnected from life support after organ donation has been discussed with the family.

Acute childhood ataxia: 10-year experience.

Forty cases of acute childhood ataxia were retrospectively assessed for main etiologies and for factors that can be used in planning the most effective and cost-efficient management. The most common discharge diagnoses were acute cerebellar ataxia, ingestion, and Guillain-Barré syndrome, encompassing 80% of all cases. The remaining 20% included various isolated causes. Acute cerebellar ataxia was primarily seen in children less than 6 years of age who had preceding viral syndromes or varicella. Ingestions were also most frequent in children less than 6 years of age, but a second peak occurred in adolescents. History was suggestive of drug ingestion in 61.5% of cases, and in addition to ataxia, lethargy was an associated symptom. The drug screen was the most informative laboratory test, with 17 of 35 being positive. Lumbar punctures were positive in seven of 25, with pleocytosis in six and elevated protein in two. Of 26 computed tomographic scans and magnetic resonance imaging scans performed, only two were positive, one for cerebellar infarct and one for cerebral edema. Acute ataxia in childhood has multiple etiologies, but it is usually due to a benign, self-limited process. A thorough history, physical examination, and drug screen should be performed before other costly and invasive tests and before admission to the hospital. This approach may eliminate the need for hospitalization of some patients with postinfectious acute cerebellar ataxia and ingestion. Neuroimaging studies should be used judiciously in the evaluation of acute ataxia, considering their low yield.

Expanding spectrum of cocaine induced central nervous system malformations.

Two patients born of mothers who abused cocaine during pregnancy were found to have various brain malformations, some of which were not previously reported. Children who were exposed to cocaine or polysubstances prenatally and who present with a neurologic deficit require neuroimaging studies to detect abnormalities.

New onset childhood seizures. Emergency department experience.

Fifty-six cases of new onset seizures evaluated in a pediatric emergency department (ED) during a one-year period were assessed retrospectively for efficiency of diagnosis and workup. The majority of patients (69%) were less than two years of age. Based on etiology, the most common seizure type was febrile (71%) followed by idiopathic (21%) and symptomatic (7%). Significant laboratory abnormalities were found in four (7%) patients; two had hyponatremia, one carbamazepine overdose and one bacterial meningitis. Screening laboratory tests including brain CT scans were generally not helpful. A thorough history including specific details regarding the seizure and a complete physical examination should eliminate the need for major laboratory and radiologic workup in the emergency department.

Eosinophilia-myalgia syndrome with myoclonic jerks.

A patient while using L-tryptophan had typical features of the eosinophilia-myalgia syndrome and in addition myoclonic jerks which are unusual for this syndrome.