RESUMO
BACKGROUND: "Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. METHODS/RESULTS: We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC. CONCLUSION: The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.
Assuntos
Complexo de Carney , AVC Embólico , Neoplasias Cardíacas , Mixoma , Complexo de Carney/complicações , Complexo de Carney/diagnóstico , Complexo de Carney/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Mixoma/complicações , Mixoma/diagnóstico , SíndromeRESUMO
BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare immune-mediated disease of the peripheral nervous system characterized by motor weakness, sensory symptoms, areflexia, and specific electrophysiological findings. Rarely, Anti-Tumor Necrosis Factor-alpha (anti-TNFa) agents, which are used as a treatment for immune-mediated diseases, can cause neurological adverse effects on the central nervous system, as well as peripheral nervous system demyelination. CASE REPORT: We describe the case of a 63-year-old woman with ankylosing spondylitis who developed chronic inflammatory demyelinating polyneuropathy after infliximab initiation. Considering the absence of other trigger agents from her medical history and the symptom onset, we assume that the development of CIDP is secondary to the anti-TNFa treatment. CONCLUSION: Although demyelinating neurological complications of anti-TNF are rare, pharmacovigilance is required. HIPPOKRATIA 2019, 23(4): 179-180.
RESUMO
BACKGROUND: In the literature, several reports are describing the coexistence of Huntington's disease (HD) or myasthenia gravis (MG) with other neurodegenerative and autoimmune disorders. Herein, we report a rare case of HD in a 66-year-old male with MG. Description of the case: The diagnosis of MG was established by acetylcholine receptor antibodies testing and compatible clinical presentation. The diagnosis of HD was based on clinical features, family history, and DNA testing. Several immunologic mechanisms have been proposed regarding the pathogenesis of HD and MG, respectively. Sharing a common autoimmune aspect could be an uncertain but potential association between the two disorders. CONCLUSION: The probability of HD and MG occurring in the same patient is extremely small. While a number of neurological and autoimmune disorders have been reported with HD and MG, this is the first described coexistence of these two entities. HIPPOKRATIA 2019, 23(1): 28-29.
RESUMO
Serum gastrin levels were determined in 21 male runners aged 21-57 years old before and after an ultra marathon (Spartathlon, Athens-Sparta, 248 km). 13 participants (group B) arrived to Sparta after a continuous run of 24-35 hours, while 8 stopped after 95-151 km (group A). The stress associated with such a strenuous run has resulted a 35% decrease of gastrin in group A and a 46% rise in group B. Gastrin levels (post-race) of group B were 56% lower than those of group A. The regulatory mechanisms of serum gastrin levels and the physiological adaptations related to such an exhaustive exercise are discussed.
