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MOMO syndrome

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only four cases around the world. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. more...

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Signs and symptoms

Along with the four aspects of the disorder that give it its name, there are also other common symptoms:

  • A downward slant of the forehead
  • Delayed bone maturation
  • Mental retardation

The ocular abnormalities are generally retinal coloboma and nystagmus.

Pathophysiology

Being such a rare disorder, very few studies have been conducted into its causes. Current research suggests that it is linked to a de novo (new) autosomal dominant mutation .

Confirmed cases

Archie Thompson was born in 2002 in Icklesham, England and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4 stone (56 lb; 25 kg) and by 24 months it was up to 6 stone (84 pounds; 38 kg). The condition placed a large strain on his heart and lungs. The Thompson family were featured in a documentary for Five first shown on 3 October 2004.

Danielli Furton, from São Paulo, Brazil, is one of the oldest surviving sufferers of MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as his mother travelled to visit her. Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students.

Two other cases have been diagnosed, one in Italy and a second in Brazil .

Read more at Wikipedia.org


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Liberia: 'Trauma upon trauma'
From Lutheran, The, 5/1/03 by Collins, Prince

Renewed fighting forces Phebe hospital patients & staff to flee

An upsurge of fighting forced Phebe Hospital & School of Nursing, near Gbarnga, in Bong County, to evacuate its staff and patients March 16-18. A ministry of the Lutheran Church in Liberia supported with ELCA funds, Phebe coordinates 28 clinics and is the only referral hospital in central Liberia.

Heavy fighting is taking place in Gbarnga between government forces and the rebel group Liberians United for Reconciliation and Democracy. The rebels reportedly entered the area after they seized control of a bridge in the north. Fear has gripped civilians in the surrounding areas, forcing them to trek day and night toward Monrovia, Liberia's capital.

Phebe's 175 employees fled the area with their families, transferring some equipment, drugs and supplies to Totota, Salala and Monrovia. Medical director Emmanuel Sandoe said the evacuation will impact the entire region, affecting "every aspect of life, including health."

Some 1,500 people were evacuated from Phebe's compound, many of them leaving on their own. Others, including most hospital staff and their families, went by the hospital's bus or European Union trucks to clinics in Totota or Salala. The trucks also carried four U.S. missionaries and most of the hospital's medical equipment to the Lutheran church compound in Monrovia, two and a half hours away.

The moves didn't take the hospital's management by surprise. "We were hearing heavy gunfire that lasted for two weeks, and finally front-line commanders of government forces ... warned us to leave the area," Sandoe said.

Hospital staff also saw refugees fleeing the area and an increase in wounded government soldiers. In the last days before the evacuation, the number of pediatric patients dropped as parents heard the gunfire and fled with their children.

At presstime, ELCA missionary William E. Martin said the evacuation "will cause a serious setback to our work. What we are trying to do now is to determine what the activities of the hospital will be in the next two months."

Martin and other staff had hoped to paint a blue "H" on Phebe's roofs to keep it from becoming a military target.

"The only thing we could do is to transfer critical [condition] patients," Sandoe said, describing how more than 20 people, mostly children and women, were taken to St. Joseph Catholic Hospital in Monrovia. There, James Kollie, a patient with heart problems, wept with fear as he spoke of his uncertain future. "This sickness has been giving me a hard time for more than six years now," he said. "The renewed fighting could not afford Phebe's staff to work on me, which could perhaps worsen my situation and this might cause me to die."

Phebe dismissed patients who could make it home with medicine for their treatment. Some with meningitis and severe anemia chose not to be evacuated to Monrovia, fearing an unknown city where they had no family or friends.

Forced to turn patients away

Sandoe, a member of St. Luke Lutheran Church (inside Phebe's compound), said patients continued to arrive at the hospital in hopes of medical care, even when it was no longer set up for treatment.

Pain breaking through his voice, Sandoe described the first day of the evacuation. "Even some of the patients who we could not treat because of the shooting that day ended up dying," he said. "Some were pregnant women. There was no way we could do hemoglobin tests to find out their blood level. ... Some were very anemic, so they [may have] died."

The day before evacuation, staff loaded the hospital's medicines and equipment into boxes bound for the Lutheran church compound in Sinkor, a suburb of Monrovia.

Hospital employee Momo Mawalo, a member of St. Peter Lutheran Church, Monrovia, questioned whether any secure place exists in Liberia, in which case staff will need to keep things on trucks, ready to flee whenever the situation changes. "Anytime we settle, there is another fighting which will cause us to run," Mawalo said. "This senseless war needs to end. We are tired of running around with Phebe's materials."

Safe for now in Totota and Salala, a skeleton crew from Phebe is trying to provide medical care for some 50,000 people who live in makeshift shelters provided by relief groups, including the Lutheran World Federation/World Service in Liberia. As many as 10,000 more refugees, walking with volumes of belongings on their heads and with babies strapped to their backs, are headed to Totota. As they walked, one family wept over the death of their 40-year-old mother from malnutrition.

"Though Phebe has evacuated, we are still providing medical assistance to the displaced people," Sandoe said. "The school building we are [occupying] in Totota is jam-packed with sick people. We are calling on other medical groups to join us in helping."

Phebe's staff is setting up a temporary hospital in Salala, in a clinic previously used by Doctors Without Borders and two field tents on loan from UNICEF. The temporary hospital will continue to serve the 28 clinics in northern Bong County.

From bad to worse

At presstime, things went from bad to worse as rebels attacked a refugee camp in western Monrovia, and U.N. and U.S. Embassy officials advised non-Liberian citizens to leave the country. The ELCA missionaries, with the exception of Bette McCrandall, who is staying in Monrovia, left April 2. During the attack on the refugee camp, at least three people were killed and 1,000 kidnapped.

Sandoe said Phebe had suffered the "pinch of war" four times: 1990, 1994, May 2002 and March 2003.

It was the second time Carolyn Van Epps, a registered nurse volunteering at Phebe and a member of Tripolis Lutheran Church, Kandiyohi, Minn., had been evacuated from the hospital.

"I feel very sad for the people of Liberia because I'm seeing trauma upon trauma," she said. "And when you talk about post-traumatic stress syndrome, we have it here in Liberia. It's very hard to try to teach and to try to help people when they are struggling for their lives."

Collins, a free-lance writer, is a member of Barnersville Lutheran Church, Monrovia, Liberia.

Copyright Evangelical Lutheran Church in America May 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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