Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient.

Congenital insensitivity to pain with anhidrosis is a type IV hereditary sensory and autonomic neuropathy, presenting early in life. This disorder results from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for sensations of pain and temperature; a neuronal loss in the sympathetic ganglia is also present. A case of a 33-year-old patient with congenital insensitivity to pain with anhidrosis is presented. From the time of birth, he did not sweat and did not respond to painful stimuli, although unexplained bouts of fever were often observed in infancy; an extensive workup during childhood helped establish the diagnosis. Throughout childhood and adulthood, the patient presented multiple infections and fractures in various sites of his body, growth disturbances, and avascular necrosis, and Charcot arthropathies and joint dislocations mainly affected his elbow and hip joint. At the final follow-up, at the age of 33 years, he was found to be obese, with a limited social life. A Charcot elbow restricted the activity of his left upper limb, and the dislocated hips combined with the instability of the ankle joints limited the ambulation distance. A specific treatment protocol has not been established in the literature; the main principles that can be applied in patients with normal intelligence include training programs to prevent self-mutilation and accidental injuries and an early diagnosis and treatment of the infections.

Haemolymphangiomas of the lower extremities: two case reports and review of the literature.

Haemolymphangiomas are congenital malformations of the vascular system, benign in origin. They can be either defined at birth or in early childhood, but the recurrence rate is usually high and complete resection is difficult to be achieved. We report two cases of haemolymphangiomas present at the tibias. We used radiographic control, ultrasound and magnetic resonance to detect the nature of the tumour and the anatomical relation with the surrounding tissues providing the appropriate surgical treatment. The diagnosis was confirmed postoperatively by histopathology. The first case presented multiple recurrences because of insufficient draining and immobilization of the leg, whereas the second case had no complications or recurrence postoperatively. Both patients had no complications or recurrence in 24-month follow-up. Haemolymphangiomas are very challenging to be treated as they can grow slowly and remain asymptomatic for many years. Sometimes they can be very aggressive in growth without characteristics of malignancy. The choice of treatment is the complete surgical excision of the tumour, sufficient and long-lasting draining, and immobilization of the extremity to abolish the possibility of recurrence. Other methods of treatment did not show better results than surgical resection.

Hemolymphangioma of the lower extremities in children: two case reports.

BACKGROUND AND PURPOSE: Hemo-lymphangiomas are rare benign tumors that arise from congenital malformation of the vascular system. They are usually diagnosed at birth or early in childhood. The management of hemo-lymphangiomas in children remains challenging because complete resection is often difficult to be achieved and recurrences are common. METHODS: We present the case of two children with a mass on their left tibia. Imaging modalities, plain radiograph, Ultrasonography and Magnetic Resonance were used to investigate the nature of the mass, the anatomical relationship to the neighboring tissues and help planning the surgical resection. The dominant diagnosis was hemo-lymphangioma. Both lesions increased in size in a short period of follow-up thus we decided to proceed to surgical excision.The diagnosis of hemo-lymphangioma was confirmed by histological examination of the surgical specimen.Post-operatively, seroma was formed to the first patient, managed by placing a drainage and immobilizing the limb on a splint.The second patient experienced no complications post-operatively.After 12 months of follow-up both patients had no complications or recurrence. CONCLUSIONS: Very few cases of hemo-lymphangiomas of the extremities have been reported in the literature. Those tumors can grow slowly and remain asymptomatic for a long period of time or may become aggressive and enlarge rapidly, without invasive ability though.Radical resection is the choice of treatment offering the lowest recurrence rates. Other therapeutic methods are: aspiration and drainage, cryotherapy, injection of sclerotic agents and radiotherapy; although none of those offers better results that the surgical excision.

A report of two cases of brucellar sacroiliitis without systemic manifestations in Greece.

We report 2 cases of sacroiliitis in a 13-year-old girl and an 11-year-old boy as the sole manifestation of Brucella melitensis infection. This is a rare condition. Throughout the course of the disease, neither the girl nor the boy had other signs of brucellosis. Sacroiliitis was documented by positive results of technetium 99m scintigraphy and magnetic resonance imaging. Isolation of B. melitensis from the blood and positive results of serologic methods established the diagnosis. Treatment consisted of bed rest and a combination of rifampin plus co-trimoxazole with gentamicin. Brucellar sacroiliitis is uncommon in children, and accurate diagnosis is frequently delayed because of nonspecific clinical presentation. In the appropriate clinical setting, we suggest that the index of suspicion for brucellar sacroiliitis be raised in an unusual joint, especially in endemic regions.