Paola Drigo

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.

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 childs 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 pediatricians memory on this frequent, benign pathology.

Unilateral hypomelanosis of Ito with hemimegalencephaly.

A five-year-old white male was referred to the Department of Paediatrics for assessment of mental retardation. On admission, the child’s weight was 19200 kg (50th-75th percentile), height 111 cm (75th percentile), head circumference 56 cm (>97th percentile). Hypopigmented macules were present from birth with a speckled, patchy and bandlike distribution on the right side of the trunk with a clear demarcation at the midline, on the upper right thigh and on the right arm. The patient had a flattened face with frontal bossing and depressed nasal bridge, divergent strabismus, hypertelorism, cup-shaped ears with a thickened antitragus and restricted external auditory meatus and flat feet. Neurological examination showed difficulty in performing fine motor tasks with the right hand, though muscular strength and deep tendon reflexes were normal and symmetrical. The 1.Q. was 71 (Stanford-Binet). The E.E.G. showed repeated sharp waves in the left centrotemporal area and fast activity in the frontal regions. Computed tomography scanning revealed asymmetry of the brain consisting in left megalencephaly with dysmorphic frontal horns of the lateral ventricles (Fig. 1). The family history was negative. Slit lamp and funduscopic examination, audiometry and auditory brainstem evoked responses, electrocardiogram, plain skull and spine roentgenograms, chromosome analysis from blood lymphocyte culture, urinary screening for amino acids and mucopolysaccharides, routine hematochemical investigations and urine analysis were all normal. The histology of a hypopigmented cutaneous lesion was compatible with IPA.

Evaluating pain induced by venipuncture in pediatric patients with developmental delay

Objectives:Little attention has been paid to the assessment of pain in children with developmental delay. The aim of this study was to explore several methods for assessing pain during venipuncture in this population of children, using classic and modified scales to evaluate the children’s response to simplified tools. Methods:Sixteen children with mild or moderate developmental delay were evaluated using three standard self-rating scales (Visual Analog Scale [VAS], Eland Scale, and Faces Scale) and three modified methods (Cube Test, Modified Eland Scale, and Modified Faces Scale), recording subjective self-ratings and behavioral expressions of pain during a venipuncture procedure, apart from the initial fear. The children’s pain and reaction time were assessed by an outside observer, while their pain and fear were also evaluated by the parents. Results:The VAS was used without difficulty by all the children and revealed a good consistency with the Cube Test. The parents’ and neutral observer’s indirect pain assessment was also consistent with the child’s evaluations. The Eland Scale proved difficult to use, especially for Down’s syndrome children, while its modified version was easier. Results emerging from the original and modified Faces Scales were inconsistent. Frightened children attributed higher pain scores, demonstrating that negative emotions exacerbate the experience of pain in developmentally delayed children. The patients showed a limited capacity for verbal and behavioral expression in reaction to the painful stimulus (especially the Down’s cases). Discussion:These findings support the conviction that even developmentally delayed children can use self-rating methods effectively. This sector demands further, more extensive study, including the development of simplified tools, to ensure an adequate pain assessment and optimal antalgic approach to this particular pediatric population.

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 T11 to L4, 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.

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.

BACKGROUND Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare. In addition to previous studies, the occurrence of spinal, vertebral, and cutaneous cavernous angiomas is now described in different members of a large family with CCM. CASE DESCRIPTION Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma. In all 11 members affected by CCM, the mutation of CCM1 gene was detected. During the follow-up, 8 subjects underwent a spinal MRI: 2 because they were symptomatic (thoracic paresthesias, enuresis, back pain) and 6 as a screening examination. Spinal MRI showed in 5 subjects spinal cavernous angiomas either alone or associated with vertebral hemangiomas. CONCLUSIONS To our knowledge, this is the largest family reported with different subjects affected by CCM associated with multiple cavernous angiomas throughout (brain and spinal cord) and besides (retina, skin, liver, and vertebral column) the CNS. Comprehensive care of patients with familial CCM includes screening of all the tissues that can be affected and appropriate management by specialists. We emphasize the importance of spinal MRI in the diagnosis of spinal and vertebral cavernous angiomas in all patients affected by familial CCM.

Childhood stroke associated with familial protein S deficiency.

Cerebral infarction is a rare pathology among children and its etiology can be identified in almost two-thirds of cases. The remaining one-third are considered idiopathic. Recently, inherited disorders of blood coagulation predisposing to thrombosis have been taken into account as a possible cause of childhood stroke. We describe here a case of a 6-year-old child presenting with ischemic stroke and protein S (PS) defect. The family study suggested inheritance of the defect. The immunological characterization of PS in the affected family members was consistent with a defect mainly in the free form of PS. In the case here reported no associated predisposing condition to stroke could be identified but familial PS defect was found. No therapy was administered. Nevertheless symptoms disappeared spontaneously and there were no recurrences at the 1 year follow-up. Diagnostic imaging techniques demonstrated that a reduction in the cerebral ischemic area had occurred 2 months after the stroke.

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis

Background: Hemiplegic migraine (HM) is a rare variety of migraine with aura, characterized by motor deficits during the aura, often beginning in childhood. The hemiplegic attacks can be severe and prolonged but the prognosis is usually good. Data on neuroimaging, including diffusion-weighted imaging (DWI) and spectroscopy, during prolonged attacks of HM are quite limited, particularly in children. Case: An eight-year-old female had a prolonged attack of sporadic HM characterized by right-sided hemiplegia, global aphasia, fever and impairment of consciousness. MRI nine hours after hemiplegia onset was negative, while the following MRI scans (days 4 and 11) documented a progressive increase in cortical swelling in the left hemisphere with mild hyperintensity on DWI and mild reduction of apparent diffusion coefficient values. Proton MRI spectroscopy (MRS) (day 15) showed a decrease in the N-acetylaspartate/creatine ratio in the left hemisphere. 99mTc-ECD single-photon emission tomography (SPET) (day 27) showed marked left hemispheric hypoperfusion. The patient recovered completely after 40 days and neuroimaging follow-up (MRI and SPET) after six months was normal. The patient carried a missense mutation of the ATP1A2 gene. Conclusion: Multimodal neuroimaging (MRI, DWI, MRS, SPET) in a prolonged HM attack supports evidence for a primary neuronal dysfunction.

Hypomelanosis of Ito and hemimegalencephaly

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis.

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.