Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene.

Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We describe a 70 year-old patient affected by recurrent arthralgias, hypoesthesia and hyposthenia in all 4 limbs and severe hypokalemia, complicated by atrial flutter. Moreover, our patient reported eating large amounts of licorice, and was treated with medium-high dosages of furosemide, thus making diagnosis very challenging. Genetic analysis demonstrated a novel heterozygous mutation in the SLC12A3 gene; therefore, we diagnosed GS and started potassium and magnesium replacement. GS combined with chondrocalcinosis and neurological involvement is quite common, but this is the first case of an EMG-proven severe neuropathy associated with GS. Herein, we underline the close correlation between hypomagnesemia, chondrocalcinosis and neurological involvement. Moreover, we report a new heterozygous mutation in exon 23 (2738G>A), supporting evidence of a large genetic heterogeneity in this late-onset congenital tubulopathy.

Coexisting polyarticular septic arthritis, gout and pseudogout.

A case of a 67-year-old man with coexisting polyarticular septic arthritis due to group G Streptococcus, gout and pseudogout is presented. Septic arthritis of the left knee joint was further complicated by the development of an adjacent osteomyelitis. Appropriate management led to a full clinical recovery. Atypical clinical presentations in elderly, need for a sampling of more than one joint in polyarthritis and a summary of similar cases in literature is discussed.

Cervical myelopathy induced by pseudogout in ligamentum flavum and retro-odontoid mass: a case report.

STUDY DESIGN: Retrospective case study. OBJECTIVES: Report a rare case of cervical myelopathy induced by calcium pyrophosphate dehydrate (CPPD) deposition in multiple cervical levels. SETTING: An area teaching hospital in Taiwan. METHOD: A patient with cervical myelopathy was evaluated by computerized tomography (CT) scan and magnetic resonance (MR) image. CPPD deposition known as pseudogout was diagnosed and approved by a polarized microscope. RESULT: A prominent hypertrophy of ligmentum flavum and a retro-odontoid bulging mass induced cord compression were found in CT scan and MR image. CPPD deposition was confirmed by the histological examinations in the ligamentum flavum at the spinal levels of C3-C6. After decompression surgery of spine and comprehensive rehabilitation, the patient's neurological symptoms subsided and her neurological functions improved leading to a good prognosis. CONCLUSION: CPPD deposition in cervical spine occurring at multiple levels is rare. Image studies with CT scan and MR are complementary in the diagnosis of CPPD-induced myelopathy. Surgical decompression is always required and expected to have a good outcome.

A case of Gitelman's syndrome with chondrocalcinosis.

A 45-year-old Japanese woman, treated for Bartter's syndrome for 14 years, presented with complaints of numbness in her extremities and polyarthralgia. She was diagnosed to have Gitelman's syndrome with chondrocalcinosis, which were effectively treated with spironolactone and magnesium supplementation. Gitelman's syndrome is a primary renal tubular disorder characterized by hypomagnesemia and hypocalciuria with normal calcemia. The persistent hypomagnesemia is one of the causes of chondrocalcinosis, and many cases of Bartter's syndrome with hypomagnesemia are associated with chondrocalcinosis attributed to a tubular magnesium defect. We summarize the reported cases with Bartter's syndrome and chondrocalcinosis, referring to the possibility of Gitelman's syndrome.

Management of a patient with calcium pyrophosphate deposition disease and meniscal tear of the knee: a case report.

OBJECTIVE: To describe the chiropractic management of a patient suffering from a right lateral meniscus tear concurrent with calcium pyrophosphate dihydrate (CPPD) deposition disease. CLINICAL FEATURES: A 51-yr-old bus driver suffered from right knee pain (7 on a 1-10 pain scale). The onset of the pain was gradual and increased during braking and accelerating. Palpatory tenderness was noted at the right lateral knee joint line and the inferior lateral margin of the patella. Active resistive range of motion (ROM) in the knee during extension was painful throughout the full ROM, whereas passive ROM was restricted in flexion at 110 degrees. A positive McMurray's test reproduced pain at the knee. Radiographic analysis revealed CPPD deposition disease, and magnetic resonance imaging revealed a probable "parrot's beak" tear in the posterior horn of the right lateral meniscus. INTERVENTION AND OUTCOME: The patient was treated conservatively. He was instructed not to put weight on the knee and not to return to work for 5 days. Initial treatments involved the use of ice and interferential electrical stimulation along with glucosamine sulfate supplements. Bicycling, weight lifting for general fitness and general knee strengthening exercises were prescribed. Approximately 5 months after initial treatment, the patient was lost to follow-up; 12 months later, he returned for treatment because of a recurrence. Physical examination at that time revealed knee pain rated at 3/10 but there was no pain upon palpation, McMurray's test was negative and right knee ROM was full without pain. CONCLUSION: A patient suffering from CPPD can be managed by conservative means. The pathophysiology, clinical features and management considerations in the treatment of the patient's condition(s) are also discussed.

Acceleration of experimental lapine osteoarthritis by calcium pyrophosphate microcrystalline synovitis.

OBJECTIVE: To investigate the effects of chronic calcium pyrophosphate dihydrate (CPPD) synovitis on the development of osteoarthritic (OA) lesions in an animal model. METHODS: OA was induced in the right knees of 30 male New Zealand white rabbits by partial lateral meniscectomy and section of the fibular collateral and sesamoid ligaments (PLM/LS), followed by 8 weekly intraarticular (IA) injections of 1 mg (low-dose) or 10 mg (high-dose) of CPPD crystals in 3 sets of experiments (10 rabbits each). The contralateral left knees served as controls: experiment 1 PLM/LS alone, experiment 2 8 weekly IA injections of CPPD crystals alone, and experiment 3 sham surgery plus 8 weekly IA injections of CPPD crystals. RESULTS: At 8 weeks, repeated IA injections of low-dose and high-dose CPPD crystals into meniscectomized right knees resulted in more severe OA than in meniscectomized but noninjected left knees (experiment 1) (P = 0.003 and P = 0.001, respectively). One-fourth of the meniscectomized knees (11 of 40), both CPPD-injected and noninjected, showed embedded synovial cartilage shards. CONCLUSION: The data demonstrate a worsening effect of chronic CPPD crystal-induced synovitis on experimental OA produced in the rabbit knees by PLM/LS, and support a possible role for CPPD microcrystalline inflammation in the progression of OA lesions in clinical CPPD crystal deposition disease.

CPPD crystal deposition disease as a cause of unrecognised pyrexia.

We describe three cases of CPPD crystal deposition disease in elderly patients whose main symptom was fever. Misdiagnosis of such cases is possible because of the similarity of the clinical picture to that of septic fever. The probable mechanisms causing the fever are discussed. There was spectacular improvement in these patients after a high dose of oral colchicine and loperamide and no relapse was observed during the long term administration of colchicine in a conservative dose together with supplementary magnesium.

Pseudogout associated with primary hyperparathyroidism: management in the immediate postoperative period for prevention of acute pseudogout attack.

Three cases of pseudogout associated with primary hyperparathyroidism are reported. Preoperative radiological studies revealed association of pseudogout. Considering the frequent development of acute pseudogout attack following parathyroidectomy, prevention of a sudden decrease in the serum calcium concentration was attempted using calcium supplement therapy starting on the first postoperative day in all three cases. Serum calcium slowly decreased to the normal range, and the postoperative courses were uneventful. From these experiences, we advocate that calcium supplement therapy is worth trying for the prevention of acute pseudogout attack following parathyroidectomy.

Coexistent septic and crystal arthritis. Report of four cases and literature review.

The coexistence of acute crystal induced synovitis and septic arthritis is an uncommonly reported occurrence. Twenty-two cases have been reported. Four additional patients are described and possible pathogenic mechanisms discussed. The diagnosis of one of these entities should not preclude a diligent search for the other.