Incidental diagnosis of Herlyn-Werner-Wunderlich Syndrome in a nulliparous woman: a case report in Bhutan

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital syndrome with features of uterus didelphys, ipsilateral absent kidney and obstructed hemivagina. Ultrasound findings of absent kidney or abnormalities in the kidney should alert the clinicians about the syndrome. Complications like endometriosis, infertility and pelvic inflammation occurs with late diagnosis.A 42-yearold nulliparious married woman who presented with right sided abdominal pain to the National Referral Hospital was diagnosed to have HWWS. The diagnosis was supported by ultrasound, CT and MRI findings. Patient was treated for endometriosis and had symptomatic improvement. The diagnosis of the syndrome is challenging as it is rare but clinicians should suspect the syndrome in women who present with infertility. Ultrasound scan is the basic investigation to screen the syndrome which is available in most hospitals.

Classification of Newborns with Congenital Syndrome Associated with Zika Virus Infection Using Machine Learning

Due to evidence that Zika virus (ZIKV) infection during pregnancy caused congenital brain anomalies, including microcephaly, in 2016 the WHO declared this disease a worldwide public health problem. The objective of this work is to identify the most important characteristics for the diagnosis of children with congenital syndrome due to ZIKV virus infection. We applied machine learning algorithms to RESP-Microcephaly, a database from the Brazilian Ministry of Health that records suspected cases of congenital abnormalities. At the end of the process, the most relevant characteristics were: weight, age of the pregnant woman, length, head circumference and region where the mother lives. This information is very significant as it is in agreement with the literature that associates these attributes with critical factors for the occurrence of congenital infection.

Mirror Movements in Acquired Neurological Disorders: A Mini-Review

Mirror movements (MMs) are specifically defined as involuntary movements occurring on one side of homologous muscles when performing unilateral movements with the contralateral limb. MMs have been considered a kind of soft neurological signs, and the persistence or reappearance of MMs in adults is usually pathologic. In addition to some congenital syndrome, MMs have been also described in age-related neurological diseases including pyramidal system diseases (e.g., stroke, amyotrophic lateral sclerosis) and extrapyramidal disorders (e.g., Parkinson's disease, essential tremor). With the advances in instrumentation and detection means, subtle or subclinical MMs have been deeply studied. Furthermore, the underlying mechanism is also being further elucidated. In this mini-review, we firstly discuss the MM examination means, and then review the literature regarding MMs in individuals with acquired neurological disorders, in order to further understand the pathogenesis of MMs.

What the neonatologists need to know about the Cantrell’s pentalogy

Cantrell’s pentalogy is a congenital syndrome that includes multiple defects which predispose the fetus to a high mortality rate. Over time, the association of malformations defining this syndrome has changed accepting incomplete forms, or forms that associate other anomalies. The therapeutic strategy in Cantrell's pentalogy is an intensely debated one as it deals with newborns having a low survival rate and multiple malformations. Once treatment is started for certain malformations it can lead to the aggravation of others. In conclusion, a conservative approach is recommended, with the initiation of surgical treatment after the stabilization of the newborn. A multidisciplinary approach is needed to achieve optimal results in these difficult cases.

Unilateral congenital lunate absence: A case report

Isolated congenital aplasia of carpal bones in the absence of an associated congenital syndrome is exceedingly rare. Since the first documented case report of congenital carpal bone absence in 1911, only 12 additional case reports have been published. Here we present a case report of an otherwise healthy 43-year-old male with unilateral congenital absence of the lunate, which has only been previously reported once in the literature.

Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

Is the ZIKV Congenital Syndrome and Microcephaly Due to Syndemism with Latent Virus Coinfection?

The emergence of the Zika virus (ZIKV) mirrors its evolutionary nature and, thus, its ability to grow in diversity or complexity (i.e., related to genome, host response, environment changes, tropism, and pathogenicity), leading to it recently joining the circle of closed congenital pathogens. The causal relation of ZIKV to microcephaly is still a much-debated issue. The identification of outbreak foci being in certain endemic urban areas characterized by a high-density population emphasizes that mixed infections might spearhead the recent appearance of a wide range of diseases that were initially attributed to ZIKV. Globally, such coinfections may have both positive and negative effects on viral replication, tropism, host response, and the viral genome. In other words, the possibility of coinfection may necessitate revisiting what is considered to be known regarding the pathogenesis and epidemiology of ZIKV diseases. ZIKV viral coinfections are already being reported with other arboviruses (e.g., chikungunya virus (CHIKV) and dengue virus (DENV)) as well as congenital pathogens (e.g., human immunodeficiency virus (HIV) and cytomegalovirus (HCMV)). However, descriptions of human latent viruses and their impacts on ZIKV disease outcomes in hosts are currently lacking. This review proposes to select some interesting human latent viruses (i.e., herpes simplex virus 2 (HSV-2), Epstein–Barr virus (EBV), human herpesvirus 6 (HHV-6), human parvovirus B19 (B19V), and human papillomavirus (HPV)), whose virological features and co-exposition with ZIKV may provide evidence of the syndemism process, shedding some light on the emergence of the ZIKV-induced global congenital syndrome in South America.