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Platelet Dysfunction and Increased Bleeding Tendency in McCune-Albright Syndrome.

J Pediatr. 2008 Aug;153(2):287-9

Authors: Bajpai A, Greenway A, Zacharin M

We observed increased bleeding tendency and platelet function abnormalities in 3 boys with McCune-Albright syndrome (MAS). We speculate that platelet dysfunction contributed to excessive blood loss in our patients. This report of platelet dysfunction in MAS highlights the need for assessment of platelet functions in the condition.

PMID: 18639732 [PubMed - in process]

Sensorineural hearing loss in primary antibody deficiency disorders.

J Pediatr. 2008 Aug;153(2):293-6

Authors: Berlucchi M, Soresina A, Redaelli De Zinis LO, Valetti L, Valotti R, Lougaris V, Meini A, Salsi D, Nicolai P, Plebani A

To evaluate the hearing function in patients affected by primary antibody deficiency disorders. Forty-seven patients, 25 of whom were affected by X-linked agammaglobulinemia and 22 of whom were affected by common variable immunodeficiency were evaluated with audiologic tests that included pure tone audiometry, acoustic immittance assessment and auditory brainstem-evoked response. Eighteen patients (38%), 7 with X-linked agammaglobulinemia and 11 with common variable immunodeficiency, showed sensorineural hearing loss, bilateral in 12 and unilateral in 6. Our data underline the high frequency of hearing loss in patients with antibody deficiency and suggest that a systematic audiologic evaluation should be part of the clinical care of these patients.

PMID: 18639734 [PubMed - in process]

Accurate reaching after active but not passive movements of the hand: Evidence for forward modeling.

Behav Neurol. 2008;19(3):117-25

Authors: Coslett HB, Buxbaum LJ, Schwoebel J

Converging behavioral findings support recent models of motor control suggesting that estimates of the future positions of a limb as well as the expected sensory consequences of a planned movement may be derived, in part, from efference copies of motor commands. These estimates are referred to as forward models. However, relatively little behavioral evidence has been obtained for proposed forward models that provide on-line estimates of current position. We report data from a patient (JD) who reached accurately to visualized targets with and without vision of her hand despite substantial proprioceptive loss. Additionally, we administered a double-start reaching test to examine the possibility that efference copy information could be used to estimate current limb position. JD reached accurately, without vision, to a final target after actively reaching to a landmark, but exhibited severely impaired reaching after passive movements to the landmark. This finding suggests that forward modeling of efference copy signals may provide relatively accurate estimates of current limb position for the purpose of motor planning. The possibility that such estimates may also contribute to the awareness of body position and to self-recognition is discussed.

PMID: 18641431 [PubMed - in process]

Erythema induratum in a Kenyan child.

Australas J Dermatol. 2008 Aug;49(3):156-8

Authors: Thoo CH, Graf N, Hogan P

A 10-year-old Kenyan girl presented with a 9-month history of a persistent, painful eruption of multiple, tender, non-ulcerated, pigmented nodules involving the calves, shins and soles of the feet. She had recurring fevers particularly at night, lethargy, weight loss and a persistent non-productive cough. The Mantoux test was positive. Chest X-ray revealed mild peribronchial thickening in the hilar region but no evidence of hilar lymphadenopathy, consolidation and/or cavitation suggestive of tuberculosis. Sputum and gastric washings were negative for acid-fast bacilli. Histology on a skin biopsy showed a granulomatous panniculitis with no histological evidence of Mycobacterium tuberculosis, consistent with erythema induratum. In view of her constitutional symptoms, chronic non-productive cough and positive Mantoux test, she was diagnosed with pulmonary tuberculosis despite the non-specific chest X-ray and negative bacteriology. Anti-tuberculous therapy was initiated with pyrazinamide, isoniazid and rifampicin for 2 months followed by dual therapy with isoniazid and rifampicin for a further 4 months. Her constitutional and respiratory symptoms and skin eruption cleared within 6 months with treatment.

PMID: 18638224 [PubMed - in process]

[Breast reconstruction by DIEP free flap: a 30 cases experience]

Ann Chir Plast Esthet. 2008 Aug;53(4):318-24

Authors: Binder JP, May P, Masson J, Revol M, Servant JM

PURPOSE: The purpose of this study was to analyse the surgical procedure and the complications in case of breast reconstruction by deep inferior epigastric perforator flap (DIEP). MATERIALS AND METHODS: This retrospective study concerns 30 cases performed between 2001 and 2005. The reconstruction was delayed (73%), immediate (3%) or realised after failed attempt to reconstruct the breast with implant or flap (27%). We studied perforator selection, operative time, total flap loss, partial flap loss, and postoperative complications. RESULTS: Flap was raised with one pedicle in 22 cases and with two pedicles in eight cases. The recipient vessels were the axillary vessels (70%), circumflex scapular vessels (27%), and the thoracodorsal vessels (1%). Mean operating time was 6h 17min for the one-pedicule flaps and 8h 43min for the double-pedicule flaps. We noted two total flap necrosis, four partial flap necrosis, one deep venous thrombosis and one pulmonary embolism. Postoperative abdominal hernia or bulge never occurred. CONCLUSION: Although the use of DIEP flap reduces morbidity of the harvest, long operative time and thrombosis complications cause significant morbidity. Therefore we only use the DIEP flap when other procedures cannot be performed.

PMID: 17950976 [PubMed - in process]

Levetiracetam in continuous spike waves during slow-wave sleep syndrome.

Pediatr Neurol. 2008 Aug;39(2):85-90

Authors: Wang SB, Weng WC, Fan PC, Lee WT

We investigated the clinical characteristics of children with continuous spike waves during slow-wave sleep syndrome and their treatment response to levetiracetam. Five boys and one girl, diagnosed with epilepsy with continuous spike waves during slow-wave sleep syndrome, were enrolled. Their clinical characteristics, including neuroimaging findings, were reviewed. The signs related to continuous spike waves during slow-wave sleep included increased seizure frequency (6/6), impaired responsiveness (3/6), and psychomotor regression (2/6). Magnetic resonance imaging disclosed lissencephaly in one patient, and porencephaly of the left hemisphere in another. The number of antiepileptic drugs before the use of levetiracetam was 0-4 (mean +/- SD, 2.3 +/- 1.5). Five of 6 children demonstrated a good response to levetiracetam, whereas 2 (40%) underwent a relapse of electrical status epilepticus during sleep pattern on electroencephalograms 4 and 5 months after clinical improvement. Both were 5 years old. The most common presenting sign in children with continuous spike waves during slow-wave sleep syndrome is increasing seizure frequency. Levetiracetam is effective in treating children with continuous spike waves during slow-wave sleep syndrome. However, the relapse rate of continuous spike waves during slow-wave sleep syndrome remains high in young children.

PMID: 18639750 [PubMed - in process]

Peri-ictal headache in children: prevalence and character.

Pediatr Neurol. 2008 Aug;39(2):91-6

Authors: Cai S, Hamiwka LD, Wirrell EC

Structured interviews regarding peri-ictal headaches and personal or family histories of interictal headaches were conducted on 101 children (aged 5-18 years), with generalized tonic-clonic or partial seizures. Epilepsy-specific details were collected by interviews and reviews of neurology clinic charts. Peri-ictal headaches were reported by 41% (29%, postictal only; 5%, preictal only; 7%, both). Clear migrainous features were present in 50% of preictal and 58% of postictal headaches. Most children described bilateral headaches. No demographic or epilepsy-specific correlates were identified that predicted peri-ictal headaches. Interictal headaches occurred in 24%, with 14% of children meeting criteria for migraines. However, neither interictal migraines nor a positive family history of migraines was significantly predictive of either peri-ictal headaches or migrainous peri-ictal headaches. Postictal headaches occurred reliably after most seizures in predisposed children, and interrupted activities in the majority. Whereas only half of children received abortive medications for these headaches, simple analgesics were effective in most cases. We conclude that peri-ictal headaches are common, affecting 41% of children with epilepsy. Their presence should be routinely queried, and if documented, treatment with simple analgesics appears beneficial and should be considered.

PMID: 18639751 [PubMed - in process]

Parental stress and quality of life in children with neuromuscular disease.

Pediatr Neurol. 2008 Aug;39(2):102-7

Authors: Mah JK, Thannhauser JE, Kolski H, Dewey D

This study examined health-related quality of life and parental stress among pediatric neuromuscular patients with or without home mechanical ventilation. Parents completed the Parenting Stress Index or Stress Index for Parents of Adolescents, depending on their child's age. The Pediatric Quality of Life Inventory measured quality of life in children with neuromuscular disease. One hundred and nine families participated; 19 (17%) families had a child with neuromuscular disease requiring home mechanical ventilation. Overall, children on home mechanical ventilation had significantly lower mean total Pediatric Quality of Life Inventory scores than nonventilated children (47.9 versus 61.5, respectively; P = 0.013). No significant difference in mean total stress scores was found between parents of pediatric neuromuscular patients with or without home mechanical ventilation. Despite their child's lower health-related quality of life, parents of pediatric neuromuscular patients requiring home mechanical ventilation did not report significantly higher parental stress than parents of nonventilated children or parents in the normative sample. We postulated that for parents living with the constant demands of caring for their child with neuromuscular disease requiring home mechanical ventilation, these caretaking demands, over time, had become part of "normal" life and were not identified as creating additional stress.

PMID: 18639753 [PubMed - in process]

Assessment of general movements in relation to neurologic signs at age two years.

Pediatr Neurol. 2008 Aug;39(2):108-12

Authors: Sustersic B, Paro-Panjan D

Abnormal movement patterns during the fidgety period, as identified by Prechtl's method for qualitative assessment of general movements, and the presence of minor neurologic and cranial signs at age 2 years, as defined by Amiel-Tison, are related to minor developmental disorders. Our study analyzed the relationship between the two assessment methods in 45 preterm infants. Cerebral palsy was identified in 4, minimal cerebral palsy in 2, and the Amiel-Tison triad in 4 children; in all, continuously abnormal patterns of general movements were present. In the intermediate group with 2 signs of the triad, one child exhibited normal movements in the writhing period, and all were abnormal in the fidgety period. The intermediate group, with one sign of the triad, comprised 9 children: abnormal findings in the writhing period were present in 8, and in the fidgety period in 7. Among 16 children without neurologic signs, normal general movements were present in 7 children during the writhing period, and in 5 during the fidgety period. We confirmed good correlation between general movements and neurologic outcome at age 2 years (Pearson's R at term age, 0.51; at fidgety period, 0.62).

PMID: 18639754 [PubMed - in process]

Congenital unilateral facial palsy and internal auditory canal stenosis.

Pediatr Neurol. 2008 Aug;39(2):116-9

Authors: Lin KM, Huang CC, Leung JH

Congenital stenosis of the internal auditory canal is a rare clinical entity. The majority of patients exhibit sensorineural hearing loss, and preserve facial-nerve function. We present a patient who manifested congenital unilateral facial palsy and ipsilateral sensorineural hearing loss clinically. Neuroimaging demonstrated stenosis of the unilateral internal auditory canal and hypoplasia of the ipsilateral trigeminal, facial, and vestibulocochlear nerves, despite normal function of the trigeminal nerves. The functional prognosis of facial and vestibulocochlear nerves was poor, and cognitive development demonstrated borderline delay.

PMID: 18639756 [PubMed - in process]

Posterior Reversible Encephalopathy Syndrome Associated With IVIG in a Patient With Guillain-Barré Syndrome.

Pediatr Neurol. 2008 Aug;39(2):123-5

Authors: Koichihara R, Hamano S, Yamashita S, Tanaka M

A 14-year-old girl with Guillain-Barré syndrome manifested headaches during the administration of intravenous immunoglobulin. Magnetic resonance imaging revealed posterior reversible encephalopathy syndrome. Several reports described posterior reversible encephalopathy syndrome associated with intravenous immunoglobulin, but only in adults. We suggest that this syndrome should be considered in children as a neurologic complication.

PMID: 18639758 [PubMed - in process]

Golf ball-related head injuries in children.

Pediatr Neurol. 2008 Aug;39(2):126-8

Authors: Nguyen J, Kaplan AM

Golf has become one of the most popular sports in the world. Golf-related head injuries are well-documented and include golf club, golf cart, and more recently golf ball trauma. We report on 2 cases of golf ball-associated traumatic brain injuries. The unique biomechanics of golf ball head trauma are reviewed. Initially golf injuries may cause minor clinical signs, with absence of skull fractures. However, the association of significant underlying intracranial hemorrhage should prompt a thorough neurologic evaluation.

PMID: 18639759 [PubMed - in process]

Acute cerebral paragonimiasis presenting as hemorrhagic stroke in a child.

Pediatr Neurol. 2008 Aug;39(2):133-6

Authors: Chen Z, Zhu G, Lin J, Wu N, Feng H

A hemorrhagic stroke in children is rarely secondary to cerebral paragonimiasis. We describe a 9-year-old boy in whom an intracerebral hemorrhage was the leading clinical indication of acute cerebral paragonimiasis. He was hospitalized because of a sudden onset of headache, right hemiparesis, and dysarthria. A computed tomography scan revealed an intracerebral hemorrhage in the left parietal lobe. Magnetic resonance angiography did not confirm any vascular abnormalities at the location of the hematoma. Four weeks later, he presented with right hemiparesis again, and fever. A diagnosis of cerebral paragonimiasis was based on repeated magnetic resonance imaging of the brain and an enzyme-linked immunosorbent assay for paragonimiasis. The patient gradually recovered with praziquantel treatment. Cerebral paragonimiasis should be considered in the differential diagnosis of hemorrhagic strokes in children in areas where paragonimiasis is epidemic.

PMID: 18639761 [PubMed - in process]

Absolute pitch in a four-year-old boy with autism.

Pediatr Neurol. 2008 Aug;39(2):137-8

Authors: Brenton JN, Devries SP, Barton C, Minnich H, Sokol DK

Absolute pitch is the ability to identify the pitch of an isolated tone. We report on a 4-year-old boy with autism and absolute pitch, one of the youngest reported in the literature. Absolute pitch is thought to be attributable to a single gene, transmitted in an autosomal-dominant fashion. The association of absolute pitch with autism raises the speculation that this talent could be linked to a genetically distinct subset of children with autism. Further, the identification of absolute pitch in even young children with autism may lead to a lifelong skill.

PMID: 18639762 [PubMed - in process]

Arterial ischemic stroke: experience in chinese children.

Pediatr Neurol. 2008 Aug;39(2):142-3

Authors: Kirton A, Chan AK, Amlie-Lefond C

PMID: 18639765 [PubMed - in process]

Sleep-related breathing disorders in children with vagal nerve stimulators.

Pediatr Neurol. 2008 Aug;39(2):142

Authors: Papathanasion ES, Papacostas SS

PMID: 18639766 [PubMed - in process]