Table 1.
Description of the complete medical condition during his follow‐up at our service at the age of 51
| Exam | Results |
|---|---|
| Physical examination | Pulmonary auscultation is normal. The patient is unable to perform a pulmonary function test. Cardiac auscultation regains a systolic murmur. The abdomen is flexible. There is no organomegaly. There is no hernia. Osteotendinous reflexes are weak in the lower limbs, normal in the upper limbs. There is no epileptoid trepidation. There is no Babinski sign. There is thoracolumbar kyphosis. The movements of the elevation of the shoulders are limited. The hands are in claw. The joints of the elbows and wrists are rather supple. The joints of the lower limbs are quite flexible. There is an asymmetric genu valgum on the right side |
| Biology report | Beta‐d‐glucuronidase activity: In leukocytes: at 6 μkat/kg (3.9% of normal control) In fibroblast: 1.1 μkat/kg (1.7% of normal control) In serum: not detectable Normal net filtration pressure Normal ionogram Normal liver assessment Normal thyroid balance Urinary excretion of glycosaminoglycans at 27.7 mg/g creatinine with significantly high excretion of CS and traces of HS and DS GUSB gene: heterozygous composite for mutations p.R382H (c.1145 G>A) and p.Y508C (c.1523A>G) |
| Abdominal scan | No perisigmoid abscess but persistence of an important infiltration of the perisigmoid fat and multiple diverticula and supracentimetric ganglia in contact with the large vessels. Portal thrombosis with presence of a cavernoma. The thrombosis extends to the splenic vein and mesenteric vein. No hepatosplenomegaly. Homogeneous liver. Kidneys of normal size, well differentiated, undiluted. Large cyst (11.6 cm) on the left kidney containing fine, hyperdense septa. No intraperitoneal effusion. Aplasia of the left femoral head |
| Orthopedic radiological assessment | Total hip prosthesis right, no wear of the acetabulum. On the other hand, kyphosis centered on T12 by necrosis and collapse, thoracic lordosis above. Genu valgum asymmetrical on the right side. Management: no correction of thoracolumbar hyperkyphosis, given his state of health; maintain both elbow crutches and continue physiotherapy twice a week |
| Cardiological assessment | Clinically: systolic murmur 2.5/6 Normal echocardiogram Echography: mitro‐aortic dystrophy with severe aortic stenosis and aortic regurgitation 1.5/4 and mitral regurgitation 1/4. No mitral stenosis. Symmetric left ventricular hypertrophy (IVS 13 mm, PP 13 mm) with normal left ventricular function (EF = 67%). Theoretical indication of aortic valve replacement, but this remains unfeasible due to the comorbidities Management: Prophylaxis of infectious endocarditis and continuation of vitamin K antagonist were indicated |
| ENT and audiophonology | Significant hearing impairment The auditory assessment indicates a bilateral hearing loss, but more so on the right side with a discrete transmissivity factor, which is entirely a matter of fitting of the hearing aid Support: Implementation of auditory equipment was very well accepted with a permanent port and a clear improvement of its intelligibility and understanding |
| Ophthalmology | Visual acuity on the right of 1.5/10 Parinaud 8 and on the left of 2.5/10 Parinaud 8 with correction Ophthalmologic complications with diffuse bilateral corneal opacities, glaucoma, and retinopathy pigmentosa Management: Intraocular tension normally maintained through hypotonic eye drops |
Abbreviations: CS, chondroitin sulfate; DS, dermatan sulfate; HS, heparan sulfate.