Bhaswati Ghoshal,Subhrajit Lahiri,Debabrata Nandi
Bhaswati Ghoshal
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndr...
Karen Sims,Roberto L P Mazzaschi,Emilie Payne et al.
Karen Sims et al.
The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3) resulting in duplicated 3q and a deletion of 3p. Molecular karyo...
Congenital midline cervical cleft: diagnosis, pathologic findings, and early stage treatment [0.03%]
先天性颈正中裂的诊断、病理及早期治疗体会
Xenophon Sinopidis,Helen P Kourea,Antonios Panagidis et al.
Xenophon Sinopidis et al.
Congenital midline cervical cleft is a very uncommon malformation of the anterior neck, with less than 100 cases reported in medical literature. Herein we present a case of a female neonate with this anomaly. A detailed description of the m...
Machiraju Vasudeva Murali,Cherukuri Nirmala,Jampana Venkateswara Rao
Machiraju Vasudeva Murali
Congenital syphilis is a severe, disabling infection often with grave consequences seen in infants. It occurs due to the transmission of the disease from an infected mother to the unborn infant through the placenta. This long forgotten dise...
Nonconvulsive status epilepticus on electroencephalography: an atypical presentation of subacute sclerosing panencephalitis in two children [0.03%]
两位儿童亚急性硬化性全脑炎的非惊厥持续状态的电生理表现
Pratibha Singhi,Arushi Gahlot Saini,Jitendra Kumar Sahu
Pratibha Singhi
Subacute sclerosing panencephalitis is a neurodegenerative disease secondary to measles infection that usually has a typical presentation with progressive myoclonia, cognitive decline, and periodic slow-wave complexes on electroencephalogra...
Embryologic Association of Tornwaldt's Cyst with Cerebral Artery Abnormalities and Infarction: A Case Report [0.03%]
胚胎学角度探究托恩瓦尔特囊与脑动脉异常及梗死的关系：1例报告
Michael F Osborn,Benjamin K Buchanan,Nassim Akle et al.
Michael F Osborn et al.
Background and Purpose. Tornwaldt's cysts are rare nasopharyngeal lesions that develop from remnants of the embryonic notochord. Summary of Case. We reported a twelve-year-old female stroke patient with Tornwaldt's cysts, whose father also ...
Prenatal diagnosis and postnatal ultrasound findings of cloacal anomaly: a case report [0.03%]
会阴部囊性肿物的产前诊断及产后声像图观察1例报告
Lívia Teresa Moreira Rios,Edward Araujo Júnior,Luciano Marcondes Machado Nardozza et al.
Lívia Teresa Moreira Rios et al.
Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman...
Phillip T Suwan,Suvarna Mogal,Subhash Chaudhary
Phillip T Suwan
Although first described in 1760, Pott's puffy tumor is a lesser known clinical entity. Often seen as a complication of frontal sinusitis, Pott's is a frontal bone osteomyelitis with an associated subperiosteal abscess. Patients present wit...
Multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex [0.03%]
产前诊断结节性硬化症的多模态影像学方法
Mariya Gusman,Sabah Servaes,Tamara Feygin et al.
Mariya Gusman et al.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasoun...
Anaplastic large-cell lymphoma in a child with type I diabetes and unrecognised coeliac disease [0.03%]
一名患有1型糖尿病和未诊断的乳糜泻儿童的间变性大细胞淋巴瘤
Jemima Sharp,Barry Pizer,George Kokai et al.
Jemima Sharp et al.
Screening for coeliac disease is recommended for children from certain risk groups, with implications for diagnostic procedures and dietetic management. The risk of a malignant complication in untreated coeliac disease is not considered hig...