Pediatric rehabilitation of severe acquired brain injury: a multicenter survey.

BACKGROUND: Epidemiological and descriptive data concerning the clinical and socio-demographic characteristics of severe acquired brain injuries (ABI) in pediatric age are meager. In particular, in Italy we only find data concerning traumatic brain injury (TBI) in adults. Earlier data show that the most prevalent etiology in ABI is traumatic and that greater clinical impairments are reported for patients with non-traumatic etiologies. AIM: The main aims of the GISCAR (Gruppo Italiano per lo Studio delle Gravi Cerebrolesioni Acquisite e Riabilitazione) study are: 1) to define the clinical features of pediatric patients with severe neurological disabilities; 2) to determine the etiology and onset modality of the cerebral lesions; and 3) to analyse the characteristics of the rehabilitation processes and patient outcome in terms of disability, strategies for treatment and clinical picture. DESIGN: Quasi-epidemiologic. SETTING: In-patient. POPULATION: 184 pediatric patients with severe ABI were recruited. METHODS: Data collection was done by means of an assessment protocol created and used by a group of Italian neurorehabilitation centers. Traumatic and non traumatic aetiologies (NTBI) have been treated separately. RESULTS: Traumatic etiology of ABI is the most prevalent (51.6%, N. 95) and about twice as many males as females are involved. Of these cases, 70.5% (N. 67) are the result of a car accident, either as a pedestrian or as a passenger, representing a crucial area for preventive action by the public health services. Eighty-six (46.7%) patients were in the acute state, 19 (10.3%) in subacute state and 76 (42.9%) in chronic condition. The results show that the positive trend for the TBI group was steeper than for NTBIs. Neuropsychological data are also discussed. CONCLUSIONS AND CLINICAL REHABILITATION IMPACT: We report the first Italian descriptive study on pediatric patients affected by ABI of traumatic or non traumatic etiology. The main points concerning rehabilitation are that major differences between aetiologies must be taken into account and that ABI of any severity in the acute phase may lead to long term disability, confirming the high social and economic impact of this pathology. Our study demonstrates the great importance of providing specialised rehabilitation centers for pediatric patients, and increases awareness of the importance of ABI prevention.

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder of early onset, clinically characterized by a progressive involvement of both peripheral and CNS. The diagnosis is based on the presence of characteristic giant axons, filled with neurofilaments, on nerve biopsy. Recently, the defective protein, gigaxonin, has been identified and different pathogenic mutations in the gigaxonin gene have been reported as the underlying genetic defect. Gigaxonin, a member of the BTB/kelch superfamily proteins, seems to play a crucial role in the cross talk between the intermediate filaments and the membrane network. The authors report clinical and molecular findings in five Italian patients with GAN. This study shows the allelic heterogeneity of GAN and expands the spectrum of mutations in the GAN gene. The frequent occurrence of private mutations stresses the importance of a complete gene analysis.

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

OBJECTIVES: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS: All patients fulfilled the criteria for SMEI. The authors analyzed all patients for SCN1A mutations using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, the authors sequenced the gene in the patient and both parents. RESULTS: SCN1A mutations were identified in 33 patients (35%). Most mutations were de novo, but were inherited in three patients. Parents carrying the inherited mutations had either no symptoms or a milder form of epilepsy. A greater frequency of unilateral motor seizures was the only clinical difference between patients with SCN1A mutations and those without. Truncating mutations were more frequently associated with such seizures than were missense mutations. The percentage of cases with family history of epilepsy was significantly higher in patients with SCN1A mutations. CONCLUSIONS: Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.

Tonic reflex seizures of early infancy: an age-related non-epileptic paroxysmal disorder.

Non-epileptic paroxysmal disorders (NEPD) include a heterogeneous group of disorders that can be confused with epileptic manifestations. They occur very frequently in the first year of life and are expressed predominantly as unusual movements. We report the clinical and EEG-polygraphic characteristics of 13 patients (nine male, four female) that we observed between 1988 and 1999, who presented non-epileptic tonic reflex seizures in the first months of life. All children had normal psychomotor development with no neurological antecedents. Onset of manifestations occurred between the first and third month of life. The seizure was characterized by diffuse tonic contraction with extension of four limbs, apnoea and cyanosis, and lasted 3-10 sec without loss of consciousness. Seizures occurred only while the child was awake and being held in a vertical position by an adult, and were triggered by movement or tactile stimulation. Ictal and interictal EEG were normal. Prognosis was benign with spontaneous remission within 2 months of onset. In our experience, this paroxysmal manifestation has not been described previously by other authors and represents a new NEPD which, in accordance with our first report of this entity, we suggest calling tonic reflex seizure of early infancy (TRSEI). (Published with videosequences.)

Neurofibromatosis type 1 presenting with hand dystonia.

Neurofibromatosis type 1 is frequently associated with increased intensity T2-weighted magnetic resonance imaging (MRI) brain abnormalities, called "unidentified bright objects." Unidentified bright objects are generally held to be benign and tend to decrease in size during adulthood. We describe a case of neurofibromatosis type 1 with a similar thalamic and subthalamic MRI abnormality associated with contralateral hand dystonia. Over a 2-year follow-up, the lesions showed a reduction in size apparently correlated with a reduction in symptoms.

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.

In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330. A maximum multipoint HLOD score of 6.29 was obtained under the hypothesis of genetic heterogeneity. Furthermore, the clustering of chromosome 2q24-linked families in southern Italy may indicate a recent founder effect. In our series, 40% of the families are linked to neither chromosome 19q or 2q loci, suggesting that at least three loci are involved in BFIC. This finding is consistent with other autosomal dominant idiopathic epilepsies in which different genes were found to be implicated.

Benign paroxysmal tonic upgaze of childhood with ataxia.

Paroxysmal tonic upgaze deviation (PTU) is a rare neuro-ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements, frequent association with mild ataxia or clumsiness at time of illness, normal metabolic, electroencephalographic and neuroradiological findings. Symptoms are frequently relieved by sleep and can be exacerbated by fatigue or illness. Although PTU generally tends to disappear spontaneously within a few months or years, subsequent case reports have demonstrated the heterogeneous nature of the syndrome with respect to outcome. To date, the pathogenesis of the condition is still unknown. We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.

Early onset benign occipital susceptibility syndrome: video-EEG documentation of an illustrative case.

Early onset benign occipital susceptibility syndrome (EBOSS) is a recently delineated form of idiopathic childhood partial epilepsy, which is still not recognized by the International League Against Epilepsy as a distinct epileptic syndrome. It occurs with generally nocturnal, prolonged partial seizures, which can become a status epilepticus. The seizures are characterized by tonic eye deviation, vomiting, progressive impairment of consciousness, autonomic symptoms, frequent progression to hemiconvulsions or generalized tonic-clonic seizures. Age at onset is usually between 3 and 7 years, frequency is remarkably low (often a single seizure), and outcome is excellent. Interictal EEG shows occipital paroxysms with fixation-off sensitivity. We present the first video-EEG documentation of a typical case of EBOSS and discuss the clinical and EEG features of the case. The documentation is useful for a better definition of the syndrome and also permits a differential diagnosis with respect to other occipital forms of epilepsy and other sleep related paroxysmal disorders.