Hypoparathyroidism and Fahr's syndrome: case series / Hipoparatireoidismo e síndrome de Fahr: série de casos

Abstract Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr's syndrome related to hypoparathyroidism. Fahr's syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.

Resumo O hipoparatireoidismo (HP) é um distúrbio metabólico raro e causa hipocalcemia, pois a secreção do paratormônio é inadequada para mobilizar o cálcio dos ossos e reabsorver o cálcio dos rins e intestino. A cirurgia cervical anterior é a causa mais comum de HP adquirido. O HP autoimune é a segunda causa mais comum em adultos. A duração, gravidade e taxa de desenvolvimento da hipocalcemia determinam a apresentação clínica. Diversos órgãos podem ser afetados pela calcificação, mais frequentemente os rins, mas também articulações, olhos, pele, vasculatura e outros órgãos e, embora raramente vista, calcificações intracerebrais. Relatamos quatro casos de calcificações dos gânglios da base (CGB) bilaterais, também conhecidas como síndrome de Fahr relacionadas ao hipoparatireoidismo. A síndrome de Fahr é caracterizada pela calcificação bilateral simétrica de áreas do cérebro que controlam os movimentos incluindo os gânglios da base, tálamo e outros; é um distúrbio neurológico raro, hereditário ou esporádico, com uma prevalência 1/1.000.000. Os principais sintomas relacionados à CGB bilateral incluem distúrbios extrapiramidais e cerebelares, comprometimento cognitivo, convulsões e alterações psiquiátricas. A CGB foi estabelecida como uma possível consequência do HP. Sua prevalência, demonstrada nas coortes de HP, variou significativamente de 12 a 74%. Atualmente, a tomografia computadorizada (TC) é o método mais valioso para o diagnóstico. O tratamento inclui suporte sintomático e identificação de causas, mas não há tratamento específico limitando a progressão da calcificação nos gânglios da base. Especialmente no HP, um tratamento precoce pode prevenir calcificações e distúrbios neurofisiológicos.

Hypoparathyroidism and Fahr's syndrome: case series.

Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr's syndrome related to hypoparathyroidism. Fahr's syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.

Renal histological findings in a patient with acute renal injury associated with purpura fulminans: a case report / Achados histológicos renais em paciente com injúria renal aguda associada à purpura fulminans: relato de caso

ABSTRACT Introduction: Purpura fulminans (PF) is a rapid progressive thrombotic disease in which hemorrhagic infarction of the skin and disseminated intravascular coagulation (DIC) occurs. It can potentially cause acute kidney injury (AKI). However, there is no description in the medical literature of renal histological findings of PF. Case report: A 20-year-old female patient, previously healthy, was admitted to the emergency department (ED) with odynophagia, fever, generalized myalgia and anuria, which evolved with the appearance of purpuric plaques on the face and limbs. She required dialysis on admission. Laboratorial tests showed anemia, leukocytosis, thrombocytopenia, and elevation of lactic dehydrogenase (LDH). The purpuric lesions became bullous with ruptures and then necrotic and erosive, reaching the dermis, subcutaneous tissue and musculature, until bone exposure. There was no improvement with initial antibiotic therapy aimed at the treatment of meningococcemia. Thrombotic microangiopathy (TMA) and PF were then suspected. The patient remained in daily dialysis, requiring plasmapheresis. After sustained improvement of the thrombocytopenia, she underwent renal biopsy, which was not compatible with TMA, characterizing possible PF. A complete recovery of the renal function was achieved and cutaneous sequels were treated with grafts. Conclusion: When thrombotic and hemorrhagic phenomena overlap, obtaining a renal biopsy can be difficult. However, in the presented case, the biopsy allowed the exclusion of AKI caused by TMA, presenting for the first time, histological findings compatible with PF.

RESUMO Introdução: Purpura Fulminans (PF) é uma doença trombótica de rápida progressão, com infarto hemorrágico da pele e coagulação intravascular disseminada (CIVD). É potencialmente causadora de injúria renal aguda (IRA). Porém, não há descrição na literatura médica dos achados histológicos renais causados por PF. Relato de caso: Mulher, 20 anos, previamente hígida, hospitalizada por odinofagia, febre, mialgia generalizada e anúria, evoluiu com aparecimento de placas purpúricas em face e membros. Necessitou de hemodiálise (HD) já na admissão. Exames laboratoriais mostravam anemia, leucocitose, plaquetopenia e elevação de desidrogenase lática. As lesões purpúricas tornaram-se bolhosas com rompimento e progressão para necrose, se aprofundaram, atingindo derme, subcutâneo e musculatura, até a exposição óssea. Não houve melhora com antibioticoterapia inicial voltada para tratamento de meningococemia. Suspeitou-se, então, de microangiopatia trombótica (MAT) e PF. A paciente permaneceu em HD diária e necessitou também de plasmaférese, após melhora sustentada da plaquetopenia, foi submetida à biópsia renal, que não foi compatível com MAT, possivelmente caracterizando PF. Houve recuperação completa da função renal e as sequelas cutâneas foram tratadas com enxerto. Conclusão: Em casos nos quais os fenômenos trombóticos e hemorrágicos se sobrepõem, a obtenção da biópsia renal se torna difícil. Neste caso, a biópsia permitiu excluir IRA causada por MAT e mostrar, pela primeira vez, achados compatíveis com PF.

Renal histological findings in a patient with acute renal injury associated with purpura fulminans: a case report.

INTRODUCTION: Purpura fulminans (PF) is a rapid progressive thrombotic disease in which hemorrhagic infarction of the skin and disseminated intravascular coagulation (DIC) occurs. It can potentially cause acute kidney injury (AKI). However, there is no description in the medical literature of renal histological findings of PF. CASE REPORT: A 20-year-old female patient, previously healthy, was admitted to the emergency department (ED) with odynophagia, fever, generalized myalgia and anuria, which evolved with the appearance of purpuric plaques on the face and limbs. She required dialysis on admission. Laboratorial tests showed anemia, leukocytosis, thrombocytopenia, and elevation of lactic dehydrogenase (LDH). The purpuric lesions became bullous with ruptures and then necrotic and erosive, reaching the dermis, subcutaneous tissue and musculature, until bone exposure. There was no improvement with initial antibiotic therapy aimed at the treatment of meningococcemia. Thrombotic microangiopathy (TMA) and PF were then suspected. The patient remained in daily dialysis, requiring plasmapheresis. After sustained improvement of the thrombocytopenia, she underwent renal biopsy, which was not compatible with TMA, characterizing possible PF. A complete recovery of the renal function was achieved and cutaneous sequels were treated with grafts. CONCLUSION: When thrombotic and hemorrhagic phenomena overlap, obtaining a renal biopsy can be difficult. However, in the presented case, the biopsy allowed the exclusion of AKI caused by TMA, presenting for the first time, histological findings compatible with PF.

Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder.

Tumoral calcinosis is an uncommon type of extraosseous calcification characterized by large rubbery or cystic masses containing calcium-phosphate deposits. The condition prevails in the periarticular tissue with preservation of osteoarticular structures. Elevated calcium-phosphorus products and severe secondary hyperparathyroidism are present in most patients with uremic tumoral calcionosis (UTC). Case report of an obese secondary to chronic glomerulonephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD) reported the appearance of painless tumors in the medial surface of fifth finger and left arm. Tumoral calcinosis was confirmed by left biceps biopsy. Poor adherence to CAPD. The patient was transferred to the "tidal" modality of peritoneal dialysis and after was treated by hemodialysis, despite the persistence of severe hyperparathyroidism progressive reduction of UTC until near to its complete disappearance. Nowadays, one year after patient received deceased-donor kidney transplantation, he presents with an improvement in secondary hyperparathyroidism. UTC should be included in the elucidation of periarticular calcification of every patient on dialysis. Relevant laboratory findings such as secondary hyperparathyroidism and elevated calcium- phosphorus products in the presence of periarticular calcification should draw attention to the diagnosis of UTC.

Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder / Reversão da calcinose tumoral urêmica pela otimização do tratamento clínico da desordem do metabolismo ósseo e mineral

Abstract Tumoral calcinosis is an uncommon type of extraosseous calcification characterized by large rubbery or cystic masses containing calcium-phosphate deposits. The condition prevails in the periarticular tissue with preservation of osteoarticular structures. Elevated calcium-phosphorus products and severe secondary hyperparathyroidism are present in most patients with uremic tumoral calcionosis (UTC). Case report of an obese secondary to chronic glomerulonephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD) reported the appearance of painless tumors in the medial surface of fifth finger and left arm. Tumoral calcinosis was confirmed by left biceps biopsy. Poor adherence to CAPD. The patient was transferred to the "tidal" modality of peritoneal dialysis and after was treated by hemodialysis, despite the persistence of severe hyperparathyroidism progressive reduction of UTC until near to its complete disappearance. Nowadays, one year after patient received deceased-donor kidney transplantation, he presents with an improvement in secondary hyperparathyroidism. UTC should be included in the elucidation of periarticular calcification of every patient on dialysis. Relevant laboratory findings such as secondary hyperparathyroidism and elevated calcium- phosphorus products in the presence of periarticular calcification should draw attention to the diagnosis of UTC.

Resumo A calcinose tumoral é um tipo raro de calcificação extraóssea caracterizada por grandes massas císticas e elásticas contendo depósitos de fosfato de cálcio. A condição é mais prevalente no tecido periarticular e preserva estruturas osteoarticulares. A elevação do produtos cálcio-fósforo e o hiperparatireoidismo secundário grave estão presentes na maioria dos pacientes com calcinose tumoral urêmica (UTC). O relato de caso em questão refere-se a um homem de 22 anos, branco, obeso, com doença renal crônica secundária à glomerulonefrite crônica, em diálise peritoneal ambulatorial contínua (CAPD), que apresentou aparecimento de tumores indolores na face medial do quinto quirodáctilio e braço esquerdo. A calcinose tumoral foi confirmada por biópsia do bíceps esquerdo. O paciente apresentava baixa adesão à CAPD. Foi transferido para a modalidade de diálise peritoneal e depois iniciou tratamento por hemodiálise. Apesar da persistência do hiperparatireoidismo grave, houve redução progressiva da UTC, com resolução próxima do seu desaparecimento completo. Há 1 ano o paciente foi submetido a transplante renal, doador falecido, e apresentou melhora do hiperparatiroidismo secundário. A UTC deve ser incluída na elucidação de calcificação periarticular de pacientes em diálise. Os achados laboratoriais relevantes, tais como hiperparatiroidismo secundário e elevação dos produtos cálcio-fósforo na presença de calcificação periarticular, devem chamar a atenção para o diagnóstico da UTC.