ABSTRACT
We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.
ABSTRACT
@#We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.
ABSTRACT
We describe a schwannoma located in the mid-diaphyseal region of the fibula of a 14-year-old boy. Radiologically this was an expansile, lytic, globular and trabeculated lesion. MRI showed a narrow transition zone with a break in the cortex and adjacent tissue oedema. Differential diagnosis included schwannoma, fibrous dysplasia, giant cell tumour and aneurysmal bone cyst. The tumour was excised en bloc, with marginal resection limits, and there has been no recurrence two years after surgery. Histopathological examination confirmed the diagnosis of classic schwannoma. There were typical hypercellular Antoni A zones, less cellular Antoni B zones, and diffuse immunoreactivity to S100 protein. This is the first report of schwannoma involving a long bone in a child.
Subject(s)
Bone Neoplasms/diagnosis , Fibula , Neurilemmoma/diagnosis , Adolescent , Bone Neoplasms/pathology , Bone Neoplasms/surgery , Humans , Magnetic Resonance Imaging , Male , Neurilemmoma/pathology , Neurilemmoma/surgery , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: To describe the clinical and laboratory findings in patients with Group A streptococci (GAS) bacteriuria. PATIENTS: Patients with GAS bacteriuria seen in a tertiary care hospital in southern India between 1988 and 1993 were identified. Data were collected from the hospital records. RESULT: GAS were isolated from 15 women and 11 men. Clinical data were available for 24 of these. The condition presented as asymptomatic bacteriuria (nine patients), dysuria or frequency (12), and fever without localizing signs (three). All infections occurred in individuals with systemic or local conditions predisposing to urinary tract infection. All patients responded well to antimicrobial therapy. CONCLUSION: GAS bacteriuria is rare and occurs only in individuals with other predisposing conditions. Patients with this infection respond well to therapy.
