informer

Angiodysplastic (AD) lesion is the most common cause of recurrent gastrointestinal (GI) bleeding in inherited Von Willebrand disease (VWD) patients lacking high-molecular-weight multimers. Defect or dysfunction of von Willebrand factor (VWF) may lead to enhanced endothelial cell proliferation followed by the development of neoangiogenesis and vascular malformation, which result in severe bleeding. Recurrent bleeding causing by GI AD is a challenging complication of VWD. The management of VWD could be difficult due to frequent recurrence and severity of bleeding episodes. The primary aim of management is not only to stop but also to prevent bleeding. We present two patients of type 3 VWD associated with AD and severe GI bleeding, which were successfully treated by endoscopic coagulation and prophylactic therapy with different regimens of plasma-derived VWF/factor VIII (pdVWF/FVIII) concentrate to maintain a trough level in the patient unresponsive to standard treatment. For more information click here.

Uncommon characteristics in genetically unsolved retinitis pigmentosa (RP) patients may indicate an incorrect clinical diagnosis or as yet unknown genetic causes resulting in specific retinal phenotypes. The diagnostic yield of targeted next-generation sequencing may be increased by a reasonable preselection of RP-patients. The participants in the study are one-hundred and twelve consecutive RP-patients who underwent extensive molecular genetic analysis. The methods, used in the study are characterization of patients based on multimodal imaging and medical history. Compared to genetically solved patients, genetically unsolved patients more frequently had an age of disease-onset above 30 years, showed atypical fundus features and indicators for phenocopies (eg, autoimmune diseases). Evidence for a particular inheritance pattern was less common. The diagnostic yield was 84% in patients with first symptoms below 30 years-of-age, compared to 69%  in the overall cohort. The other selection criteria alone or in combination resulted in limited further increase of the diagnostic yield (up to 89%) while excluding considerably more patients (up to 56%) from genetic testing. The medical history and retinal phenotype differ between genetically solved and a subgroup of unsolved RP-patients, which may reflect undetected genotypes or retinal conditions mimicking RP. Patient stratification may inform on the individual likelihood of identifying disease-causing mutations and may impact patient counselling. For more information click here.

We present five Danish individuals with Hajdu-Cheney syndrome (HJCYS) (OMIM #102500), a rare multisystem skeletal disorder with distinctive facies, generalised osteoporosis and progressive focal bone destruction. In four cases positive genetic screening of exon 34 of NOTCH2 supported the clinical diagnosis; in one of these cases, mosaicism was demonstrated, which, to our knowledge, has not previously been reported. In one case no genetic testing was performed since the phenotype was definite, and the diagnosis in the mother was genetically confirmed. The age of the patients differs widely from ten to 57 years, allowing a natural history description of the phenotype associated with this ultra-rare condition. The evolution of the condition is most apparent in the incremental bone loss leading to osteoporosis and the acro-osteolysis, both of which contribute significantly to disease burden. For more information click here.

Parry Romberg Syndrome or Progressive Hemifacial Atrophy is a rare disease usually affecting one side of face with loss of soft and hard tissues. The disease appears suddenly and is usually self-limiting in 2-10 years time. The loss of soft and hard tissue leads to aesthetic and functional deficits which are compounded by the presence of associated symptoms like neuralgia, migraine, epilepsy and ocular involvement. The degree of deformity depends on the age at which the disease manifests first; the younger the age, the more severe the deformity. These patients undergo severe psychological trauma and social problems. The exact etiology is not known, and treatment is largely cosmetic. A report of three cases and a literature review is presented. For more information click here.

Kikuchi-Fujimoto’s disease KFD is a rare and benign cause of cervical lymphadenopathy. It is an anatomoclinical entity of unknown etiology. The confirmation of the diagnosis is always provided by histological lymph node study. The clinical picture sometimes evokes lymphoma or tuberculosis. The evolution is generally favorable with spontaneous healing after a few weeks. We report the case of a 26-year-old woman who had consulted for cervical lymphadenopathy associated with fever. The cervical lymph node biopsy concluded to Kikuch-Fujimoto’s disease. The evolution was marked by rapid regression of lymphadenopathy under corticosteroid treatment. For more information click here.