Unusual neuroimaging in a young boy with cerebral X-linked adrenoleukodystrophy.

We describe the case of a 7-year-old boy with cerebral X-linked adrenoleukodystrophy presenting with neurobehavioral symptoms. Attention deficit with hyperactive behavior was followed by progressive memory retrieval deficits and difficulty in writing. A detailed review of the clinical history, clinical examination and contrast-enhanced brain nuclear magnetic resonance imaging disclosed indeed an atypical cerebral form of X-linked adrenoleukodystrophy with diffuse anterior and posterior white matter involvement with a typical rim of contrast enhancement. A severe clinical deterioration occurred despite dietary treatment and hormonal replacement therapy. These rare but severe forms of atypical cerebral X-linked adrenoleukodystrophy can more often mimic attention deficit/hyperactivity disorder and should, therefore, be considered in young males with progressive neurobehavioral symptoms, particularly when possibly related to frontal white matter involvement. An accurate clinical history and examination should determine whenever a contrast-enhanced head MRI should be indicated.

Tethered cord in patients with anorectal malformation: preliminary results.

BACKGROUND: A tethered cord (TC) has been reported in as much as 50% of the patients affected by anorectal malformation (ARM). No guidelines for timing and modality of diagnosis and treatment have been established. We present the preliminary results of a multidisciplinary protocol carried out at our center. METHODS: Seventy-four ARM patients underwent spinal magnetic resonance imaging (MRI). All TC patients underwent videourodynamic (UD), somatosensory-evoked potentials (SEPs), and neurological examination at baseline and, if normal, at 5 and 10 years of age. Conversely, when UD or SEP abnormalities were detected the follow-up was individually tailored at shorter time. RESULTS: 25/74 patients had a neuroradiological TC (33.7%). Based on the results of UD, SEP, and neurological status, four patients were untethered, eight are possible candidates, nine are stable, and four were excluded because of incomplete data. DISCUSSION: Tethered cord is frequent in ARM patients. Because neurological deficits secondary to TC can contribute to neurological disability, we recommend routine MRI examination and a multidisciplinary program of follow-up in cases of TC. Preliminary results suggest the combined use of SEPs and UD could represent a useful adjunct to clinical examination in patients in whom a "wait and see" approach is preferred to the prophylactic surgery.

Clinical and diagnostic aspects of multiple sclerosis and acute monophasic encephalomyelitis in pediatric patients: a single centre prospective study.

OBJECTIVE: The purpose of the study was to compare and contrast the initial presenting demographic, clinical, neuroimaging, and laboratory features in a cohort of children affected from multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM). METHODS: A 12-year prospective study was conducted in 68 pediatric patients (age

[Visual motor and visual defects in spina bifida]. / Problemi visivi e visuomotori nella Spina Bifida.

Among the numerous problems that Spina Bifida (SB) patients are faced with, impairments to the visual apparatus are often considered late and are not covered extensively in the literature. At the Pediatric Department of the University of Padua, an assessment of the visual function of 59 SB patients between 5 months and 26 years of age (29 male and 30 female) has been carried out by means of an ophthalmologic protocol As far as the alteration of the exstrinsic ocular mobility is concerned, 44% (26/59) of our patients revealed a manifest squint and only 3% (two patients) suffered from a latent squint. The most frequent type is a convergent squint (80%). The assessment of visual acuity made through Optotype was good in 82% of the cases (unlike what is commonly reported in the literature) and mild in 18%. None of the patients manifested hypovision. Refraction defects were present in 59% (34/59) of the patients. Regular ophthalmologic evaluations from birth or from diagnosis allow ophthalmologic treatments that are tailored to children suffering from SB and also enable them to reach and maintain a good visual standard and to observe the subtle symptoms of endocranial hypertension sooner. An early discovery and correct treatment of visual problems improves cognitive and motive performance as well as the autonomy of SB patients.

[Visual motor and visual defects in spina bifida]. / Problemi visivi e visuomotori nella spina bifida.

Among the numerous problems that spina bifida (SB) patients are faced with, impairments to the visual apparatus are often considered late and are not covered extensively in the literature. At the Pediatric Department of the University of Padua, an assessment of the visual function of 59 SB patients between 5 months and 26 years of age (29 male and 30 female) has been carried out by means of an ophthalmologic protocol. As far as the alteration of the exstrinsic ocular mobility is concerned, 44% (26/59) of our patients revealed a manifest squint and only 3% (two patients) suffered from a latent squint. The most frequent type is a convergent squint (80%). The assessment of visual acuity made through Optotype was good in 82% of the cases (unlike what is commonly reported in the literature) and mild in 18%. None of the patients manifested hypovision. Refraction defects were present in 59% (34/59) of the patients. Regular ophthalmologic evaluations from birth or from diagnosis allow ophthalmologic treatments that are tailored to children suffering from SB and also enable them to reach and maintain a good visual standard and to observe the subtle symptoms of endocranial hypertension sooner. An early discovery and correct treatment of visual problems improves cognitive and motive performance as well as the autonomy of SB patients.

Clear-cell meningioma in a 22-month-old male: a case report and literature review.

We report a case of spinal clear-cell meningioma occurring in a 22-month-old male who presented a right limp and then refused to walk. Spinal magnetic resonance imaging demonstrated a large, intradural tumor from T(11) to L(4), which was totally excised. The patient's postoperative recovery was uneventful and 5 months after surgery he began walking again. The latest follow-up magnetic resonance imaging of the brain and spine, obtained 42 months after diagnosis, was negative for tumor recurrence. Though clear-cell meningioma is a rare form of meningioma, it should be considered in the differential diagnosis of any space-occupying lesion of the spine arising in very young children. Complete surgical removal is necessary because it is potentially aggressive and may recur. After surgery, an accurate follow-up is warranted.

Benign paroxysmal vertigo of childhood.

Benign paroxysmal vertigo of childhood (BPV) is a paroxysmal, non-epileptic, recurrent event characterized by subjective or objective vertigo that occurs in neurologically intact children. We recorded the history and the clinical aspects of 19 cases presenting with neurological problems to the outpatient clinic at the Pediatrics Department of Padova University between 1987 and 1998 and re-examined in 1999. Details were collected on the characteristics of their vertigo: age at onset, mode of onset, trigger factors, duration, frequency and recurrence of episodes, duration of symptoms in time and age at disappearance. An attempt was also made to establish any family history of migraine and kinetosis and the most important data were compared, when possible, with those reported in the literature. Differential diagnosis and pathogenetic hypothesis were also reported. It is worth emphasizing that it is important for pediatricians to be aware of these benign events to ensure a correct diagnostic approach, avoiding the child and family any pointless anxiety or costly and sometimes invasive diagnostic procedures.

CCM1 gene mutations in families segregating cerebral cavernous malformations.

Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM. The mutations predicted truncation of the Krit1 mRNA encoded by CCM1, supporting the contention that CCM result from loss of Krit1 protein function and the possibility that this protein acts as a tumor suppressor.

Benign paroxysmal torticollis of infancy.

Benign paroxysmal torticollis is an episodic functional disorder of unknown etiology that occurs in the early months of life in healthy individuals. The child's head tilts to one side for a few hours or days, usually without any associated symptoms. The disorder, which disappears within the first few years of life, is often misinterpreted and the patient pointlessly undergoes numerous tests. We present our series of 22 patients observed at the pediatric neurology outpatients clinic in Padova with a view to refreshing the pediatrician's memory on this frequent, benign pathology.

Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.

OBJECTIVES: Anticipation has been linked to unstable trinucleotide repeats in many neurological disorders. We examined the hypothesis of genetic anticipation in familial cavernous angioma (FCA) of the central nervous system. MATERIAL AND METHODS: The mean ASO of affected individuals was compared between successive generations in 55 families. Intergenerational pair-wise comparisons were employed to avoid several ascertainment biases. Regarding severity of disease both type of manifestation and number of cavernous angiomas were compared between generations. RESULTS: The mean ASO decreased significantly both from the first to the second generation (31.6 vs 17.8 years; P = 0.000) and from the second to the third generation (17.8 vs 6.7 years; P = 0.002). The pair-wise comparisons also showed significantly earlier ASO. No clear evidence for anticipation with regard to severity of disease was found. CONCLUSIONS: Molecular genetic studies will determine whether trinucleotide repeats are the underlying mechanism for our observation of anticipation in FCA.