[PAGID] two children with inflammatory bowel disease

[Dr. Esther de Vries]

Dear all,

 

I would like two have your advice on two of my patients, both with
gastrointestinal problems, but with a very different background.

 

Patient 1 is a now 10-year-old boy who is severely mentally retarded due to
a partial trisomy 6p. He is the first and only child of healthy
non-consanguineous Caucasian parents, had severe feeding difficulties, motor
and developmental retardation, and lower respiratory tract infections from
birth onwards, and obstructive apneas due to tracheomalacia and retrognatia
requiring permanent tracheostomy during his first years of life. Initially,
his respiratory infections were ascribed to his other problems. At the age
of 3, immunological studies revealed hypogammaglobulinemia (IgG 1.03, IgA
<0.05, IgM 0.6g/l), and absent response to Hib vaccination. Repeated tests
at the age of 8 showed decreasing IgM (0.33g/l), normal IgA (0.49g/l), and
no responses to tetanus toxoid and unconjugated pneumococcal vaccination.
The frequency of infections decreased enormously as long as an adequate
serum IgG level was maintained by (subcutaneous) immunoglobulin
substitution. Granulocyte count and lymphocyte subpopulations were
repeatedly normal; unexplained thymic hyperplasia and widespread
reticulogranular pulmonary infiltrates remain visible on X-rays. Despite his
life-long intractable diarrhoea with increased faecal a1-antitrypsin
(2.5-3.1mg/g faeces) and intermittent hypoalbuminemia (minimum 34g/l) his
weight for height still follows the p50. Duodenal biopsy earlier this year
showed a chronic Crohn-like inflammation, biopsies from the stomach,
oesophagus and rectosigmoid showed no inflammation. Recently, he suffered
from an episode of increased diarrhea with blood and mucus (blood and mucus
had never been present before), which has improved without therapy.
Unfortunately, up to now, his parents have refused colonic (and pulmonary)
biopsies. They are very reluctant concerning any medical intervention.
Although his diarrhea is a bit better now, he is in a permanent state of
malabsorption, and probably had a bout of colitis which may recur. In the
past, he was treated for his then more active pulmonary problems with
dexamethasone for a long time. According to the mother this did not
influence his diarrhea at all at the time.

My question to you is what your advice would be concerning treatment of the
Crohn-like inflammation which he has probably had all his life
(immunosuppressants? if so, which ones?), and the treatment of his
presumptive colitis, in case it recurs.

 

      Patient 2 is a now 14-year-old boy who is mildly mentally retarded,
and who was diagnosed already years ago as 'phenotypic diarrhea' (also
called 'syndromic diarrhea' or 'tricho-hepato-enteric sydnrome') in
consultation with dr. Goulet at Necker hospital in Paris. He was born
prematurely and small for gestational age (35 weeks postmenstrual age, 1345
grams), suffered perinatal asfyxia with ensuing mild left hemiparesis
(cerebral MRI suggestive of perinatal hypoxic damage). His tetralogy of
Fallot was corrected with a homograft which is increasingly stenotic due to
calcification and will be dilated by catheterisation next month. He has
nystagmus, torticollis and bilateral perceptive deafness of unknown origin.
He suffered from several urinary tract infections in the past, no urological
abnormalities were found; his right kidney is small and fibrotic since then
but renal function normal. He has splenomegaly of unknown origin. He
suffered from intractable diarrhea since the age of 1 month, and received
total parenteral nutrition for many years, but is now doing rather well on
semi-elementary enteric (PEG) feeding. He had many central line infections,
all with intestinal flora. Hypogammaglobulinemia with oligoclonal gammopathy
and decreased responses to tetanus and pneumococcal vaccination were
documented repeatedly throughout the years, he is on intravenous
immunoglobulin substitution (Port-a-Cath, no infections in the past few
years). In 2007 he no longer tolerated his PEG feedings and was found to
have a duodenal web and stenosis of the renal flexure of the colon of
unknown origin (it was not present some years earlier). Recently, he had
three episodes of gluteal abscesses with fistula formation originating from
the rectosigmoid; intestinal flora was cultured. The abscesses subsided
after a colostoma was put in place last month. Biopsy of the colon shows a
Crohn-like inflammation. Because of his good clinical condition after the
colostoma was put in place, he was not yet put on immunosuppression.

      My question to you is what your advice would be concerning treatment
of the Crohn-like inflammation in his colon, in case it recurs.

 

Thanks for your help! 

 

Esther de Vries, pediatric immunologist, Jeroen Bosch Hospital,
`s-Hertogenbosch, the Netherlands.

 

 

 

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