Blood disease symptoms resemble child abuse

http://www.newscientist.com/news/news.jsp?id=ns99993794
18:14 06 June 03
Celeste Biever
Exclusive from New Scientist Print Edition

When Christina Nguyen-Phuoc's 12-day-old son suddenly refused to eat, became
unresponsive and breathless, she took him to a hospital in Houston. X-rays
revealed haemorrhages in his brain and eyes. Child protection services
promptly put both her sons in care and took her to court.

"I told them that Andrew got sick overnight, and they said that that can't
happen, you have to shake a baby to get a brain haemorrhage," Nguyen-Phuoc
told New Scientist. Two months later, doctors discovered that her son
actually had a rare blood disease called haemophagocytic lymphohistiocytosis
(HLH).

This is one of three cases highlighted in a study in the latest issue of
Pediatrics (vol 111, p 636). It is the first time attention has been drawn
to the potential confusion between HLH and child abuse injuries. No one
knows how many other cases there are like this worldwide - and the tragedy
is not just that parents are wrongly accused, but that without prompt
diagnosis and treatment HLH can be fatal.

The disease, which can be genetic or caused by infections such as glandular
fever, is thought to affect just one in 50,000 babies. But many cases may be
slipping through the net because of the lack of awareness among doctors, the
absence of a quick-and-easy test for the disease and the fact that the link
between brain symptoms and HLH was discovered only recently.

Inflicted injury

The rareness of HLH and the commonness of child abuse are a disastrous
combination. "Most paediatricians will never see a case of this during their
careers," says James Whitlock of Vanderbilt College of Medicine in
Nashville, Tennessee. So when they are confronted with symptoms such as
retinal haemorrhaging, widely taken to be a sure sign of "inflicted injury",
the logical assumption is child abuse.

Most of the time they are right. Indeed, child protection workers worry that
raising the profile of HLH could let child abusers off the hook. "Child
abuse is by far and away more common than HLH," says Jeanine Graf, a
paediatrician and member of the child protection service at the Texas
Children's Hospital in Houston, to which Nguyen-Phuoc's case was referred.

She points out that three million children are abused each year in the US,
whereas just 200 are known to suffer from HLH.

This is a danger, agrees Kenneth McClain of the Baylor College of Medicine
in Houston, one of the study's authors. But he hopes that strict adherence
to the medical diagnosis of HLH will prevent lawyers twisting the disease to
their advantage.

Failed suicide

HLH is caused when disease-fighting cells called lymphocytes and macrophages
fail to commit suicide when they are no longer needed. Instead, they attack
normal cells and inhibit essential processes such as the production of blood
platelets.

The disease has long been known to disrupt liver and bone marrow function,
but it was only recently discovered that it can also cause bleeding in the
brain and eyes. It is these little-recognised symptoms that most closely
resemble the tearing and bleeding inflicted by sudden movements of the head
and neck, says Graf. A baby need not be shaken very hard to cause brain
lesions (New Scientist print edition, 16 June 2001, p 4).

It was the brain damage that convinced the child protection services in
Nguyen-Phuoc's case. "They had a neurologist with 30 years' experience
testify that he was 100 per cent sure that it was shaken-baby syndrome. It
was all based on the X-rays," Nguyen-Phuoc says.

Only an autopsy can clearly distinguish between the brain damage caused by
macrophages and that resulting from abuse. But if a child has HLH it
strongly suggests that abuse is not to blame.

Overlapping results

Unfortunately, there is no easy way to diagnose the disease. The quick tests
are inconclusive because the results overlap with those seen for other
diseases such as hepatitis, encephalitis, sepsis and leishmaniasis. A test
for lowered levels of "natural killer cells" in the blood is a sure sign of
HLH, but it takes at least a week to get results.

"One of the most frustrating things about HLH is there is no widely
available rapid test that will say yes or no," says Whitlock. But because
HLH is rare, it is not a priority for research institutions.

Nguyen-Phuoc was lucky. Other doctors suspected HLH, the charges against her
were dropped and her son was given a bone marrow transplant.

The babies in the two other cases died, and the bereaved parents of one
remain under suspicion because the hospital involved still refuses to accept
that HLH can cause brain damage, despite McClain's efforts to persuade
doctors there.

From today's (11/5) New York Times letters to the editor:

Assumptions on Adoption

    Re "Cash Incentives for Adoptions Seen as Risk to Some Children" (front page, Oct. 29):

The federal overemphasis on adoption has destroyed many families that might have been salvaged if more emphasis were placed on family support and on protecting parents' legal rights to raise their own children.

Contrary to the assumption that children who are freed for adoption lack family resources, many parents' rights are terminated mainly because they lack competent legal representation and access to basic family supports like housing, child care or health care. What happened to the Jackson boys in New Jersey is deplorable, but so is the "uneventful" adoption of children who could have been safely reunited with their own families.

MICHAEL ARSHAM Executive Director Child Welfare Organizing Project East Harlem Neighborhood Center New York, Oct. 29, 2003