Figure 1
Radiography of the chest
AP view shows diffuse reticular pattern on both lungs.
Clinical History
with mental retardation, seizures and multiple facial Pringle fibro-adenomas was admitted for respiratory distress and hyperthermia.
Imaging Findings
A patient with mental retardation, seizures and multiple facial Pringle fibro-adenomas was admitted for respiratory distress and hyperthermia.
Radiography of the chest, AP view shows diffuse reticular pattern on both lungs. CT scan of the thorax (slice thickness of 1.5mm) demonstrates diffuse interstitial thickening of the lung parenchyma and presence of innumerable thin walled air cysts.
CT scan of the abdomen, hepatic level, shows the presence of multiple lobulated intrahepathic masses with fat density (- 84 HU).
On CT of the abdomen, pelvic level , gross enlargement of both kidneys is seen. Replacement of renal parenchyma by tissue with fat densities (- 59 HU), extending into the pelvis, is noted. This tissue did not further enhance after injection of contrast medium.
Based on clinical and radiological features, the diagnosis of tuberous sclerosis was suggested.
Radiography of the chest, AP view shows diffuse reticular pattern on both lungs. CT scan of the thorax (slice thickness of 1.5mm) demonstrates diffuse interstitial thickening of the lung parenchyma and presence of innumerable thin walled air cysts.
CT scan of the abdomen, hepatic level, shows the presence of multiple lobulated intrahepathic masses with fat density (- 84 HU).
On CT of the abdomen, pelvic level , gross enlargement of both kidneys is seen. Replacement of renal parenchyma by tissue with fat densities (- 59 HU), extending into the pelvis, is noted. This tissue did not further enhance after injection of contrast medium.
Based on clinical and radiological features, the diagnosis of tuberous sclerosis was suggested.
Discussion
Tuberous sclerosis is an autosomal dominant neuro-ectodermal disease. The penetrance is low, resulting in sporadic appearance in 60% of the cases. The incidence is 1/100 000 to 1/150 000 live births. The classical triad of clinical manifestations including: adenoma sebaceum, mental retardation and seizures is reported in 33%. The disease is characterized by hamartomas involving multiple organs. Dermatologic lesions are the most constant feature, including hypomelanotic macules, confetti skin lesions, facial angiofibromas, ungual fibromas and Shagreen's patches. The intracranial changes are due to "tubers", 1 to 2 cm in size, which can involve the cortex and/or the subependymal spaces. The subependymal lesions can degenerate into a giant cell astrocytoma in 2 to 15% of patients. This tumor, although usually benign, can grow large and cause symptoms due to its mass effect. Other organs involved include multiple rhabdomyomas of the heart allowing prenatal US diagnosis, renal cysts and bilateral angiomyolipomas. Renal angiomyolipomas are found in about two third of the cases at autopsy. There is a small risk of degeneration of the renal lesions into renal cell carcinoma. Pulmonary involvement has been considered as lymphangiomyomatosis involving 1% of female patients. Hepatic hamartomas are seen in about 25% of the pediatric age group, more commonly in older female children, and are generally without clinical consequences. Some authors consider lymphangiomyomatosis and angiomyolipomas a minor form of the disease.
Differential Diagnosis List
Tuberous sclerosis
Final Diagnosis
Tuberous sclerosis
References
[1] Braffman B, Naidich TP. The phakomatoses: Part I. Neurofibromatosis and tuberous sclerosis. Neuroimaging Clin of North Am 1994; 4: 299-324. (PMID: 8081631)
[2] Cook JA, Oliver K, Mueller RF et al. A cross sectional study of renal involvement in tuberous sclerosis: J Med Genet 1996; 33: 480-484. (PMID: 8782048)
[3] Lenoir S, Grenier P, Brauner MW et al. Pulmonary lymphangiomyomatosis and tuberous sclerosis: comparison of radiographic and thin-section CT findings. Radiology 1990; 175: 329-334. (PMID: 2326456)
[4] Roach ES, Delgado MR. Tuberous sclerosis. Dermatologic Clinics 1995; 13: 151-161. (PMID: 7712641)
Case information
| URL: | https://www.eurorad.org/case/943 |
| DOI: | 10.1594/EURORAD/CASE.943 |
| ISSN: | 1563-4086 |
Figure 2
CT scan of the thorax
(slice thickness of 1.5mm) demonstrates diffuse interstitial thickening of the lung parenchyma and presence of innumerable thin walled air cysts.
Figure 3
CT scan of the abdomen
On hepatic level, shows the presence of multiple lobulated intrahepathic masses with fat density (– 84 HU).
Figure 4
CT of the abdomen
On pelvic level, gross enlargement of both kidneys is seen. Replacement of renal parenchyma by tissue with fat densities (- 59 HU), extending into the pelvis, is noted. This tissue did not further enhance after injection of contrast medium. Based on clinical and radiological features, the diagnosis of tuberous sclerosis was suggested.
Radiography of the chest
AP view shows diffuse reticular pattern on both lungs.
CT scan of the thorax
(slice thickness of 1.5mm) demonstrates diffuse interstitial thickening of the lung parenchyma and presence of innumerable thin walled air cysts.
CT scan of the abdomen
On hepatic level, shows the presence of multiple lobulated intrahepathic masses with fat density (– 84 HU).
CT of the abdomen
On pelvic level, gross enlargement of both kidneys is seen. Replacement of renal parenchyma by tissue with fat densities (- 59 HU), extending into the pelvis, is noted. This tissue did not further enhance after injection of contrast medium. Based on clinical and radiological features, the diagnosis of tuberous sclerosis was suggested.