|Aamir Jalal Al Mosawi, MD, PhD|
I am pediatric nephrologist at the University Hospital in Al Kadhimiyia, one of only three teaching University hospitals in Baghdad, Iraq. Though I am not trained formally in genetics , I have a long-standing interest in rare hereditary syndromes diagnosis . I am going to tell you the story of the 76th girl in the world with Coffin-Siris syndrome (CSS).Its not a cheerful story, it's a family disaster. Many clinical syndromes are named after the persons who first described. No one heard about this disease until 1970 when American pediatrician and radiologist described it. Of course their names were Coffin and Siris.
You may wonder how a nephrologist developed skills in 'Rare syndrome' diagnosis [One the most difficult clinical tasks in the practice of medicine] in Baghdad. I am self-taught. More importantly, I have a lifelong commitment to learning this skill. Even as a senior pediatric resident more than 10 years ago, I made extra effort to diagnose difficult cases. Some of my colleagues gave me the nickname "The Professor" and I took pride in recognizing rare disorders. They challenged me that diagnosing rare disorders was a useless pursuit.
Anyhow, during the first month of my senior pediatric rotation in the neonatal unit, I diagnosed diastrophic dysplasia in a patient who had been diagnosed with achondroplasia by two faculty members. Achondroplasia is much more common than diastrophic dysplasia. I was proud that the diagnosis was changed.
As the current head of the department of pediatrics and director of postgraduate continuing medical education, I consider it my responsibility to document the occurrence of rare disorders. The day that I met this patient "Teeba Hatem" was a typical hot August day during the year 2004. When I arrived at the hospital. I have been working here for more than 10 years and generally travel by taxi. The clinic where I see most young patients is a relatively quiet place. It is not too full as you might imagine since it is a consultation clinic for pediatric disease, not a general outpatient clinic.
The place is relatively well organized. My secretary sits in the outer room and a 3rd year pediatric resident helps by weighing and measuring patients. The girl who had been referred to me was a dysmorphic 4 years old with mental retardation that was hyperactive and difficult to control. She had been evaluated by several pediatricians and was brought by her mother, a 32-year-old school teacher who was the sole support for her daughter. The parents were divorced, and the mother said tearfully that her daughter's problems played a role in the failure of the marriage. The parents were a city couple. The girl had been their only pregnancy, and the parents were not related. The father was 34 years old.
The girl had been born at 30 weeks of gestation by cesarean delivery because of lack of progress during labor, at a hospital providing good prenatal care. The mother did not report taking any drugs during pregnancy. Although the pregnancy was uneventful, fetal movement was so poor that she thought the fetus was probably dead. Ultrasonography was not performed. At birth, weight was 1.75 kg and all of growth parameters were below the 3rd centile. She had coarse facial features with thick eyebrows, mild left ptosis , large mouth, thick prominent lips, facial hypertrichosis , Fingers and nails were small, and the terminal phalange. Renal sonography revealed absence of the right kidney with no other abnormality. CT scan of the brain was normal. Chromosome analysis was normal.
To find a diagnosis, I searched on the terms mental retardation and renal agenesis using a table in a pediatric nephrology textbook and did an extensive search of United States National Library of Medicine. I thought that unilateral renal agenesis had been reported infrequently in patients with CSS [Levy and Baraister, 1991]. I do not know of any geneticists practicing now in Iraq so I was unable to ask another colleague to confirm CSS, but it seemed to me to be an obvious diagnosis. From the resources I had available, I counted that she was probably the 76th case. I provided the mother with an adequate explanation about the possible underlying genetic defect, and told her also that her daughter might be the first Arab child diagnosed with CSS.
During the second visit, I told the mother that her daughter had a very rare condition called CSS [Carey and Hall, 1978].I told the mother I am going to present the case of her daughter at European medical conferences and publish it in medical journals and I really did. The mother was happy to know her daughter might be described in a medical journal. She gave me the consent to publish and present her photo.
I have not been able to follow the patient during the year 2005 since the patient did not attend my clinic this year, which is to be expected in the current situation within my country. Many of my renal patients with life-threatening disorders are not attending their regular visits. I am not able to go to the hospital or my clinic on some days.
What I can impart to you, however, is the great satisfaction that a self-trained doctor feels in making a diagnosis. I really understand how sad it's for the parents.
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