Tomoyuki Tsunoda,Tsuyoshi Sogo,Haruki Komatsu et al.
Tomoyuki Tsunoda et al.
Omental infarction (OI) is a rare cause of acute abdomen in children. A 9-year-old girl was presented with sudden-onset intermittent right lower quadrant abdominal pain and fever (37.9°C). Physical examination revealed abdominal tenderness...
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child [0.03%]
以手部下垂为表现的少年压后性遗传性神经病一例
Inês Sobreira,Cátia Sousa,Ana Raposo et al.
Inês Sobreira et al.
Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a r...
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia [0.03%]
新的常染色体隐性c10orf2突变导致婴儿期起病的脊小脑萎缩症
Jessica N Hartley,Frances A Booth,Marc R Del Bigio et al.
Jessica N Hartley et al.
Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 2712...
Using primary care parenting interventions to improve outcomes in children with developmental disabilities: a case report [0.03%]
运用儿科养育干预改善发育障碍儿童预后的个案报道
Cassandra L Tellegen,Matthew R Sanders
Cassandra L Tellegen
Parenting is central to the health and well-being of children. Children with developmental disabilities have been shown to be at increased risk of developing emotional and behavioral problems. Parent training programs are effective interven...
Early-onset chronic inflammatory disease associated with maternal microchimerism [0.03%]
与母体细胞微嵌合相关的早期发作性慢性炎症性疾病
Tomoaki Ishikawa,Yoshihiko Sakurai,Tomohiro Takeda et al.
Tomoaki Ishikawa et al.
Maternal microchimerism (mMc) refers to the presence of a small population of cells originating from the mother. Whether mMc leads to autoimmune responses in children remains controversial. We describe here an 11-year-old boy with persisten...
Chronic granulomatous herpes encephalitis in a child with clinically intractable epilepsy [0.03%]
慢性肉芽肿性带状疱疹性脑脊髓炎一名难治性癫痫患儿
James R Hackney,D Keith Harrison,Curtis Rozzelle et al.
James R Hackney et al.
Most patients with herpes simplex virus Type I encephalitis experience an acute, monophasic illness. Chronic encephalitis is much less common, and few late relapses are associated with intractable seizure disorders. A 10-year-old boy was ad...
Perineal accessory scrotum with congenital lipoma: a rare case report [0.03%]
会阴 accessory scrotum 伴先天性脂肪瘤：一例罕见病例报告
Souvik Chatterjee,Vishal Gajbhiye,Sasanka Nath et al.
Souvik Chatterjee et al.
A case of accessory scrotum in a 1-year-old boy is reported because of its rarity. A boy presented with a tumor mass attached with scrotum-like skin on its tip in the right side of perineum between the scrotum and anus. Both testes had desc...
Pediatric multiple sclerosis-a challenging demyelinating disease: case report and brief review of the literature [0.03%]
儿童多发性硬化症-一种令人棘手的脱髓鞘疾病：病例报告和文献综述
Regina Célia Ajeje Pires de Albuquerque,Raquel Siqueira Leonel de Paula,Manuelina Mariana Capellari Macruz Brito et al.
Regina Célia Ajeje Pires de Albuquerque et al.
Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years and usually affects more women than men. Although m...
A fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy [0.03%]
一个患有已知先天性肌病的婴儿因未被发现的慢性通气不足导致肺源性心脏病死亡的病例报告
John M Holst,Mary J Willis
John M Holst
The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children w...
Persistent umbilical discharge from an omphalomesenteric duct cyst containing gastric mucosa [0.03%]
含胃黏膜的脐肠系膜管囊肿所致持续性肚脐分泌物
Kanimozhi Tamilselvan,Arunodaya Mohan,Sarah Cheslyn-Curtis et al.
Kanimozhi Tamilselvan et al.
Umbilical discharge in infancy is often attributed to infection or an umbilical granuloma. It is important to investigate if such a discharge is due to an underlying congenital abnormality because corrective surgical intervention may then b...
Case Reports
Case reports in pediatrics. 2012:2012:482185. DOI:10.1155/2012/482185 2012