May 31, 2010

If you cry, you die. RAS syndrome

Tianna Lewis, just two years old, suffers from RAS (Reflex Anoxic Seizure) a strange evil that allows the circulation of blood to the brain when something surprising or makes you mourn.
Little Tianna’s condition is triggered by tears, because if she does, her skin turns white, the body is stiffened, and her heart and breathing stops temporarily. She was diagnosed at 18 months old, and her parents have the difficult task to prevent her from crying.

Reflex anoxic seizure reportedly can also be triggered by pain, fear, fright or a very hot or cold bath.
Fortunately, reflex anoxic seizures generally receives less frequent and eventually stop in childhood. Sometimes the attacks persist until early adulthood. link

The Benjamin Button Syndrome

Is actually a Hutchinson-Gilford progeria syndrome and is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive).
This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886. link

Ondine’s curse

Also called congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine’s curse classically suffer from respiratory arrest during sleep.
This very rare and serious form of central sleep apnea involves an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while

Pregnant baby

An outstanding incident took place in the medical practice of Saudi doctors. A year-old girl turned out to be pregnant.
Fetus in fetu (or fœtus in fœtu) is a developmental abnormality: a mass of tissue inside the body that more or less resembles a fetus. There are two theories of origin concerning fetus in fetu. One theory is that the mass begins as a normal fetus but becomes enveloped inside its twin
The other theory is that the mass is a highly developed teratoma. Fetus in fetu is estimated to occur in 1 in 500,000 live births link

The inability to move the eyes from side to side.

Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. Most people with Möbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or

Abnormal legs that never stops growing

Mandy Sellars, 33, from Lancashire of England, may be suffering from an extremely rare disease called Proteus syndrome,that left two of her legs weighing 92-98kg out of total body weight about 130kg. What’s the worse, the abnormal legs never stops growing, and one day, they may have to be amputated.
“This is a very rare disorder. Certainly, less than one in a million,” said Dr. John Graham, director of clinical genetics at Cedars-Sinai Medical Center in Los Angeles. “Proteus syndrome is named for the Greek God who could change his form. And because it was such an apt description of how these individuals rapidly change form from appearing relatively normal as young children to this startling overgrowth, the name has remained with the disorder ever since then.”link