Revesz syndrome is a fatal disease

Disease

A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...

 that causes exudative retinopathy

Retinopathy

Retinopathy is a general term that refers to some form of non-inflammatory damage to the retina of the eye. Frequently, retinopathy is an ocular manifestation of systemic disease.-Pathophysiology:Causes of retinopathy are varied:...

 and bone marrow

Bone marrow

Bone marrow is the flexible tissue found in the interior of bones. In humans, bone marrow in large bones produces new blood cells. On average, bone marrow constitutes 4% of the total body mass of humans; in adults weighing 65 kg , bone marrow accounts for approximately 2.6 kg...

 failure. Other symptoms include severe aplastic anemia

Aplastic anemia

Aplastic anemia is a condition where bone marrow does not produce sufficient new cells to replenish blood cells. The condition, per its name, involves both aplasia and anemia...

, intrauterine growth retardation, fine sparse hair, fine reticulate skin

Skin

-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...

 pigmentation, ataxia

Ataxia

Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...

 because of cerebellar

Cerebellum

The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...

 hypoplasia

Hypoplasia

Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...

, and cerebral calcification

Calcification

Calcification is the process in which calcium salts build up in soft tissue, causing it to harden. Calcifications may be classified on whether there is mineral balance or not, and the location of the calcification.-Causes:...

s. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome, which is related to Dyskeratosis congenita

Dyskeratosis congenita

Dyskeratosis congenita , also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital disorder which results in what in some ways resembles premature aging...

.

Causes & Treatment

The disease is genetic

Genetics

Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....

 in nature and is thought to be caused by short telomeres. Patients with Revesz syndrome have presented with mutations in TINF2

TINF2

TERF1-interacting nuclear factor 2 is a protein that in humans is encoded by the TINF2 gene.-Interactions:TINF2 has been shown to interact with ACD, POT1 and TERF1.-External links:*...

 and aspects of telomerase, both of which cause short telomeres. There is not yet a treatment.

History

The syndrome is named after the author of the original case published in 1992. The patient was a 6 month-old male from Sudan

Sudan

Sudan , officially the Republic of the Sudan , is a country in North Africa, sometimes considered part of the Middle East politically. It is bordered by Egypt to the north, the Red Sea to the northeast, Eritrea and Ethiopia to the east, South Sudan to the south, the Central African Republic to the...

. At 7 months, the patient developed aplastic anemia, and subsequently died at 19 months. A second case was reported in 1994 in a young girl in Hungary

Hungary

Hungary , officially the Republic of Hungary , is a landlocked country in Central Europe. It is situated in the Carpathian Basin and is bordered by Slovakia to the north, Ukraine and Romania to the east, Serbia and Croatia to the south, Slovenia to the southwest and Austria to the west. The...

. She had many of the same symptoms as the child in Sudan.

Epidemiology

Revesz syndrome has been observed only in children. Knowledge of the disease suffers though, as the low frequency of the disease, and lack of general knowledge of its symptoms results in the discovery and subsequent reporting of very few cases. Most physicians are simply unaware that the subset of symptoms associated with Revesz syndrome comprise a distinct disorder.