An atypical monomelic presentation of Mazabraud syndrome

Mazabraud syndrome is a rare condition characterized by a combination of fibrous dysplasia and intramuscular myxomas. In Mazabraud syndrome, the distribution of fibrous dysplasia is mostly polyomelic and frequently located in the femur, with myxomas adjacent to the fibrous dysplasia lesion of bone (mostly in the quadriceps muscle). However, when presented as atypical clinical features, patients of Mazabraud syndrome is either misdiagnosed or difficult to diagnose. We report an atypical monomelic case of Mazabraud syndrome in the right upper arm and discuss the difficulties in making an accurate diagnosis.     

Cranio-carpo-tarsal dysplasia syndrome (Freeman-Sheldon syndrome, whistling face syndrome)

A case of the rare Freeman-Sheldon Syndrome combined with a high luxation of the left hip is reported. The importance of differential diagnosis to arthrogryposis multiplex congenita is explained.     

Nephrotic syndrome associated with hemophagocytic syndrome

Hemophagocytic syndrome (HPS) is defined by bone marrow and organ infiltration by activated, nonmalignant macrophages, which phagocytose blood cells. The clinical spectrum of HPS is broad, but renal involvement has rarely been investigated. We report a previously unknown renal manifestation of HPS: nephrotic syndrome. This multicentric retrospective study included patients fulfilling the following criteria: (i) no history of nephropathy; (ii) HPS diagnosis with histologic evidence of hemophagocytosis; (iii) occurrence of nephrotic syndrome during HPS; and (iv) available renal histology. Using the same criteria, we also searched the literature for additional cases. We identified nine patients retrospectively and found two additional cases in the literature (five males and six females, whose mean age was 34 +/- 27 years). Black African patients predominated (63.6%). HPS was due to lymphoma (six cases), infectious disease (three cases), and autoimmune disease (one case), and was primary in one patient. Acute renal failure was associated with nephrotic syndrome in 10/11 cases. Renal histology showed acute tubular necrosis associated with collapsing glomerulopathy in five patients (all Africans with negative human immunodeficiency virus serology), minimal change glomerulopathy in four, and thrombotic-microangiopathy with abnormal podocytes in two. Death occurred in seven cases. Nephrotic syndrome should be included among the renal complications of HPS with acute renal failure. We postulate that abnormal T-cell activation and/or high pro-inflammatory cytokine levels during HPS might cause podocyte injuries, especially among African patients with a susceptible genetic background.     

Hemolytic uremic syndrome associated with Denys-Drash syndrome

The Denys-Drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms’ tumor, and constitutional mutations in the WT1 suppressor gene. Most patients develop end-stage renal failure. Atypical hemolytic uremic syndrome (HUS) is defined by onset of acute hemolytic anemia with fragmented erythrocytes, thrombocytopenia, and renal failure in the absence of a gastrointestinal prodromal illness of bloody diarrhea. The purpose of this report is to describe the occurrence of features of atypical HUS and Denys-Drash syndrome in two African-American boys aged 13 and 16 months. Each had nephrotic syndrome, diffuse mesangial sclerosis, and WT1 point mutations. Both had grade III hypospadias and undescended testes. They had normal serum creatinine concentrations and hematology a month before presenting with HUS. Stool cultures for Escherichia coli 0157:H7 were negative. Each patient has been transplanted with cadaver kidneys without recurrence of HUS. Received: 20 July 1999 / Revised: 22 February 2000 / Accepted: 17 March 2000     

Combined Alport syndrome,Klinefelter syndrome and Fanconi syndrome in a Chinese boy

Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5 genes. Klinefelter syndrome (KS) is the most common genetic cause of human male gonadal dysgenesis. AS and KS are both rare disease, there are only three cases of combined AS and KS in the literatures. Fanconi syndrome (FS) caused by AS is also very rare. We report here the first case combined AS, KS and FS in a Chinese boy. We suggest that the severe renal phenotype and FS might be due to the two homozygous COL4A5 variants in our boy, and cases of AS combined KS will be good research objects for X chromosome inactivation.     

SSMB syndrome. Symptomatic supernumerary muscle belly syndrome

Supernumerary muscle bellies (SMBs) of the forearm, common anatomic variant, are usually asymptomatic but can produce a debilitating pain syndrome that is secondary to a tendon-muscle shear phenomenon. This shear phenomenon seems to occur when a SMB is attached to another muscle and the excursion of the two units are different, thus parts of a muscle unit are prevented from migrating proximally on contraction of the entire muscle. The anomalous muscle may have either greater excursion, as in an anomalous palmaris longus attached to the flexor digitorum superficialis, or less excursion, as in an anomalous superficialis muscle attached to the carpus. The shear at the interface between different muscle-tendon units produces a burning pain that usually is localized to the distal one-third of the forearm. Surgical excision of the abnormal restricting muscle or tendon component relieves the symptom complex and restores the ability to apply full power. Observation on typical cases, diagnostic methods, operative technique, and results of the syndrome suggest that SSMB may be responsible for undiagnosed and untreated instances of distal forearm complaints.