ELECTRA LOST IN TRANSIT

Like all the tragedies about the House of Atreus, Euripides’ Electra dramatizes the political stakes of familial disorder. In the background lies the legendary story of Agamemnon who sacrificed his daughter Iphigenia and, after returning from Troy, was killed by his wife Clytemnestra and her lover Aegisthus. Electra takes place sometime after that murder and political usurpation, with the couple scrambling to secure their rule against the potential threat of Agamemnon and Clytemnestra's children. When the play opens, Clytemnestra and Aegisthus have already exiled Orestes from Argos and relocated Electra to its border where she lives in a forced countryside marriage to a poor farmer. Over the course of the play, the siblings reunite and plot the murders of their mother and her new husband. By its end, Orestes and Electra are prepared to say goodbye to each other for good and, under the stain of matricide, to embark on their respective forms of movement, wandering for him and a new marriage for her.

Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

Brooke–Spiegler Syndrome (BSS) is a rare autosomal dominant familial disorder resulting in dermatologic neoplasms of copious nodular appendages. Here, we report a case of Familial Cylindromatosis (FC), a subtype of BSS, in a patient with the largest cylindroma of 7.4 × 5.6 × 3.8 cm on the scalp. The patient had undiagnosed cylindromas growing for 36 years at presentation; however, he did not seek out healthcare evaluation. Excision and pathologic investigation of three large masses from different body sites determined a shared phenotype of cylindromas. Subsequent evaluation of the patient's son separately, after primary patient excision, confirmed cylindroma development as well. The pathologic evidence of cylindromas in the patient with a new history of family incidence confirmed the diagnosis of the FC variant of BSS.

A CASE OF OSLER WEBER RENDU SYNDROME AND ITS ANAESTHETIC IMPLICATIONS

Osler-Weber-Rendu disease or hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder. First recognised in the 19th century, this rare often undiagnosed familial disorder with abnormal vascular structures, causes bleeding from the nose and gastrointestinal tract. This condition is characterised by lack of communicating capillaries connecting arteries and veins resulting in multiple arteriovenous malformations (AVMs) and telangiectasia. We describe a case report of anaesthesia management of a patient with Osler-Weber-Rendu disease.

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e.,MFRP,TMEM98,PRSS56,BEST1, andCRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

Colonic adenocarcinoma presenting as hemophagocytic syndrome

Hemophagocytic syndrome (hemophagocytic lymphohistiocytosis [HLH]) is a rare and potentially fatal disorder characterized by pathological immune activation associated with primary familial disorder, genetic mutation or occurring as a sporadic condition. The later can be secondary to infections, malignancies, or autoimmune diseases. Malignancy-associated HLH is commonly seen in hematological malignancies and rarely with solid organ tumors. We report a case of adenocarcinoma colon presenting as hemophagocytic syndrome. To the best of our knowledge, it is the first case report of HLH secondary to carcinoma colon.

Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion

Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. The latter can be secondary to infections, malignancies, or autoimmune diseases. Clinically, patients present signs of severe inflammation, with unremitting fever, cytopenias, spleen enlargement, phagocytosis of bone marrow elements, hypertriglyceridemia, and hypofibrinogenemia. Increased suspicion is determinant to timely initiate treatment in an attempt to alter the natural history. The authors present three clinical cases of this syndrome, with a brief review of the diagnostic criteria and treatment.

Sporadic Occurrence of Jarcho-Levin Syndrome in an Ivorian Newborn

We report on an isolated chest-wall asymmetry with imaging findings of multiple vertebral and related rib defects in an Ivorian male newborn. He was born of a healthy and young couple without parental lineage, neither family malformative history nor teratogen exposure. This clinical presentation advocates Jarcho-Levin syndrome, a rare sporadic or familial disorder inherited as autosomal dominant or recessive mode and manifested by extensive vertebral segmentation defects with distinctive rib structural and morphological anomalies. According to our belief, this disorder has not been previously traced in the sub-Saharan African area.