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Inherited Disorders and Birth Defects

Immune Deficient or Is that underlying



I am the mother of a 2 yr old little girl with some medical issues. I have listed below her history, symptoms & some questions. Would like your advice?



? Conceived after two years of trying via Clomid 200mg, an injection of ?, and Intrauterine Insemination ? 16 weeks gestation- Elevated AFP and elevated HCG. No neural tube defect noted on ultrasound. Decided against amniocentesis because of the risks. Final determination was a failing placenta, had ultrasounds every 6 weeks until 32 weeks gestations when they were increased to twice weekly with fetal stress tests twice weekly. ? Born 38 weeks 5 days via C-section. 5 lbs. 2 oz. 17 inches. Initial problems after birth included maintaining blood sugar. Discharged after 3 consecutive stable glucose levels on day 4. Weight at discharge 4 lbs. 6 oz.

1st Year

? 8 weeks- Primary Care did chromosome studies for Downs Syndrome because of leveled AFP during pregnancy and facial characteristics of Downs. Results were negative. ? Grew normally until age 1.

2nd Year

? 15 month well visit- minimal weight gain since 12 month exam. ? 18 month well visit- no weight gain since 15 month visit, wide array of labs drawn, lab work revealed possible immune deficiency and referred to Infectious Disease.


? Failure to Thrive – Currently 22lbs. ? Chronic diarrhea 1-4 times daily containing undigested food (such as carrots, pasta, green beans, oranges, chicken, etc) ? Grayish-blue coloring around the eyes at times, occasionally with drainage, occasionally with redness and bright red veins appearing in the corners. ? Distended belly in the late afternoon, early evening ? Extremely large appetite, having to remove her from the food at times ? Hypogammaglobulinemia – Very low IgG – fluctuates between 250-350; IgA – WNL; IgM – elevated at times but not always; No severe or recurring infections in past 5 months ? No obvious neurological issues, meeting milestones adequately, good fine motor skills


? Currently seeing GI as well o Endoscopy- normal; minimal chronic gastritis, minimal chronic esphogititis o Stool studies- negative for ova & parasites, negative c. diff, pending stool fat ? Immunoglobulins – as stated above ? CBC – currently normal, does have frequent fluctuations with WBC, segs very low, lymphs very high ? Sed Rate – WNL ? TSH & T4 Free- WNL ? CH50 – WNL ? Celiac – Negative


? Prevacid Solutab 15mg once daily ? PediaSure – 3 cans daily


? Thyroid Disease in all females on the paternal side ? Maternal grandmother – rheumatoid arthritis, osteoporosis ? Maternal grandfather – heart disease, hypertension ? Paternal great grandfather – Parkinson’s Disease


? Could something neurological being going on? How could the elevated AFP from the pregnancy be related? Is it true that many neurological diseases don’t reveal muscular symptoms until the child is older, often deteriorating motor skills that at first developed normally? ? Could the diarrhea be viral, and being that she has very low IgG, she is unable to fight it? If so, would IVIG help with this even though IgG is not lower than 200? ? Can Celiac Disease take years to diagnose? Do the villi in the small intestines heal themselves quickly at a young age, but lose that ability over time? ? As her mother, I feel something is not right, but I can’t put my finger on it. She is not my first child so I do have some comparison.


It is impossible for me to provide you with a diagnosis or provide adequate answers to all your questions.

An elevated maternal serum AFP during pregnancy can be associated with a normal outcome as well as a number of other findings such as pre-term birth or low birth weight.

Whether or not your daughter’s problems are due to a neurological disorder or some type of metabolic disorder, I cannot say. However, you may want to discuss with your doctor having her evaluated by a specialist in metabolic diseases or a geneticist that specializes in metabolic diseases if that has not been done.

While not having a specific diagnosis can be very frustrating for everyone, it appears that you and her doctors are providing the appropriate management strategies for her symptoms.

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University