Parkes Weber syndrome: a rare cause of foot drop.

This case report describes a patient in her late 60s, previously diagnosed with Klippel-Trenaunay syndrome who presented with difficulty walking. A year prior to her presentation she had a fall which made her notice a painless foot drop on the right. Her right leg was profoundly hypertrophied compared with the left, and a port-wine stain was present on the lateral side, extending from the hip to the mid-shin. The patient's differential diagnosis based on clinical examination and investigations is discussed leading to a final diagnosis of sciatic neuropathy secondary to an arteriovenous malformation due to Parkes Weber syndrome.

The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients.

BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is a hereditary, sensorimotor and autonomic neuropathy caused by deposits of mutated transthyretin (TTR). The commonest TTR mutation is V30M (ATTRV30M) with patients usually living for about 10 years after disease onset. Liver transplantation (LT) until recently was considered the standard treatment. OBJECTIVE AND METHODS: This study aims to assess the frequency of CNS complications in post-LT patients from the Cypriot cohort. Epidemiological data were collected for all genetically confirmed ATTRV30M neuropathy patients diagnosed at CING since 1992, and CNS-associated symptoms were assessed and evaluated by two neurology specialists. RESULTS: Out of the 48 transplanted patients, 10 (20.8%) presented with a CNS complication. All patients had ocular involvement, mainly glaucoma (7/10). Eight presented with transient focal neurological episodes (TFNEs), with expressive dysphasia being reported by four of them. The mean time of TFNE-emergence was 16.6 years after the LT. Three died from cerebral hemorrhage. CONCLUSIONS: CNS complications in post-LT ATTRV30M patients are not rare and usually manifest themselves at a time that surpasses the mean time the patients would have survived without a LT. CNS involvement is associated with increased mortality, due to cerebral hemorrhage.

Indolent systemic mastocytosis mimicking Crohn's disease.

Mastocytosis is a rare and heterogeneous group of diseases whose common element is the presence of dense mast-cell infiltrates in various tissues. The gastrointestinal (GI) tract is frequently affected with vague and subtle manifestations, making the diagnosis of GI mastocytosis rather formidable and challenging. The diagnosis of the disease requires a high level of clinical suspicion and an index of familiarity. To our knowledge, this is the first case of indolent systemic mastocytosis with colonic ulcerations. Because of the unusual presentation of mastocytosis, it was initially misdiagnosed as Crohn's disease; the diagnosis of mastocytosis was established after further evaluation of the patient's history and further investigation. Systemic mastocytosis should therefore be considered in the differential diagnosis in patients presenting with abdominal manifestations that cannot be otherwise explained or attributed to common GI pathologies and in cases where the patient's trajectory does not follow the expected course. More research is needed into the epidemiology and the non-classical presentation of systemic mastocytosis in order to increase awareness of the disease in the medical community.

Left Ventricular Noncompaction Cardiomyopathy Presenting with Heart Failure in a 35-Year-Old Man.

Isolated ventricular noncompaction, a rare genetic cardiomyopathy, is thought to be caused by the arrest of normal myocardial morphogenesis. It is characterized by prominent, excessive trabeculation in a ventricular wall segment and deep intertrabecular recesses perfused from the ventricular cavity. The condition can present with heart failure, systematic embolic events, and ventricular arrhythmias. Two-dimensional echocardiography is the typical diagnostic method. We report a case of heart failure in a 35-year-old man who presented with palpitations. Two-dimensional echocardiograms revealed left ventricular noncompaction, which markedly improved after standard heart failure therapy.