Congenital children

MacDonald, H., and Tobin, J. O. H. (1978). Congenital cytomegalovitiis infection A collaborative study on epidemiological, clinical and laboratory findings. Dev. Med. Child Neurol. 20, 271-282. 

Lennard L, Gibson BES, Nicole T, Lilleyman JS. Congenital thiopurine methyltransferase deficiency and 6-mer-captopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993 69 577-579. 

A child is diagnosed with a congenital deficiency of medium-chain acyi-CoA dehydrogenase activity. Which of the following signs or symptoms would most likely occur upon fasting in this child ... 

The incidence of STDs, by their nature, closely follow changes in sexual behaviour and practices of the population as evidenced by the decline of many, but not all, STDs in the safe sex era induced by the AIDS pandemic. However, STDs continue to be a major health problem worldwide. Apart from acute morbidity they also are a major cause of pelvic inflammatory disease and infertility among women of child-bearing age, and cause congenital infections among the newborn. 

Fig. 5.1.2 Cholesterol biosynthesis branch of the isoprenoid biosynthetic pathway. Enzymes are numbered as follows 1 squalene synthase 2 squalene epoxidase 3 2,3-oxidosqua-lene sterol cyclase 4 sterol A24-reductase (desmosterolosis) 5 sterol C-14 demethylase 6 sterol A14-reductase (hydrops-ectopic calcification-moth-eaten, HEM, dysplasia) 7 sterol C-4 demethylase complex (including a 3/ -hydroxysteroid dehydrogenase defective in congenital hemidyspla-sia with ichthyosiform nevus and limb defects, CHILD, syndrome) 8 sterol A8-A7 isomerase (Conradi-Hunermann syndrome CDPX2) 9 sterol A5-desaturase (lathosterolosis) 10 sterol A7-reductase (Smith-Lemli-Opitz syndrome). Enzyme deficiencies are indicated by solid bars across the arrows...

Table 5.1.1 Inherited disorders of isoprenoid/cholesterol biosynthesis. CDPX2 Conradi-Hunermann syndrome, CHILD congenital hemidysplasia with ichthyosiform nevus and limb defects, HEM hydrops-ectopic calcification-moth-eaten, MA/HIDS mevalonic aciduria/ hyperimmunoglobulinemia D and periodic fever syndrome, MIM Mendelian Inheritance in Man... 

As an alternative, primary skin fibroblasts or lymphoblasts of patients suspected to be affected with a cholesterol biosynthesis defect can be cultured for 3-7 days in medium supplemented with fetal calf serum depleted of lipoproteins to induce cholesterol biosynthesis, whereupon the specific defect can be determined by sterol analysis using GC-MS as described above. This procedure will readily identify patients affected with Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, hydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia and most patients with Conradi-Hunermann syndrome (CDPX2). Patients with congenital hemidys-plasia with ichthyosiform nevus and limb defects (CHILD) syndrome may not be identified with this assay, but they can be readily diagnosed on the basis of their typical clinical presentation. 

Isotretinoin (1) works extremely well for severe acne, and is efficacious for 75% of all patients. However, like all oral retenoids, isotretinoin (1) has a spectrum of toxicity. Most prevalent of all is its profound teratogenic properties. The risk of a major congenital abnormality in the first tnmester in pregnant women is increased by 25-fold. Therefore, it is mandatory for women of child-bearing potential who are taking... 

Cerebral infarction has also been reported in association with the use of desmopressin in children (31,32). One of these cases involved a 7-month-old child with congenital nephrotic syndrome who developed a cerebral infarction after surgery (31). One child developed cerebral ischemia after Varicella infection and desmopressin for enuresis (32). 

There are many forms of hypothyroidism, differing in their cause and age of onset (see Table 31-1). Severe adult hypothyroidism (myxedema) may occur idio-pathically or may be caused by specific factors such as autoimmune lymphocytic destruction (Hashimoto disease). In the child, thyroid function may be congenitally impaired, and cretinism will result if this condition is untreated. Hypothyroidism may result at any age if the dietary intake of iodine is extremely low. Several other forms of hypothyroidism that have a genetic or familial basis also exist.54... 

The Finnish Register of Congenital Malformations was established in 1963. Register is based on compulsory notifications of all malformations detected during the first year of life. The notification lists the names and dates of birth of the mother and child, a description of the delivery, and the malformation type of the child. Additionally a matched-pair register has been established for investigation of selected indicator malformations (6). 

This scenario is based on a true story that demonstrates the multiple breakdowns that can occur during the medication use process that led to the death of an infant. An infant was born to a mother with a prior history of syphilis. Despite having incomplete patient information about the mothers past treatment for syphilis and the current status of both the mother and the child, a decision was made to treat the infant for congenital syphilis. After phone consultation with infectious disease specialists and the health department, an order was written for one dose of benzathine penicillin G 150,000 units IM. ... 

R7. Reichlin, M., Brucato, A., Frank, M. B., Maddison, P. J., McCubbin, V. R., etal., Concentration of autoantibodies to native 60-kd Ro/SS-A and denatured 52-kd Ro/SS-A in eluates from the heart of a child who died with congenital complete heart block. Arthritis Rheum. 37,1698-1703 (1994). 

Early attempts to explain congenital malformations followed two basic premises. Either they were of prophetic significance (a belief held by the Babylonians) or they were manifestations of the wrath of God. A modern twist on this kind of thinking occurred in Iraq in 1965. In this situation, a mother and newborn child were put to death following a family trial since the infant was born with a well-developed tail. The assertion was that the mother must have indulged in obscene sexual practices with a monkey. 

Stacpoole PW, Barnes CL, Hurbanis MD, et al. Treatment of congenital lactic acidosis with dichloroacetate a review. Arch Dis Child 77 535-541,1997. 

Esmer MC, Rodriguez-Soto G, Carrasco-Daza D, Iracheta ML, Del Castillo V. Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero case report and review of the literature. Childs Nerv Syst 2000 16(3) 176-80. 

Smith, C. and Graham, J. (1945) Congenital medullary cysts of the kidneys with severe refractory anemia. Am. J. Dis. Child. 69,369-377. 

Davis, J.J., Heyman, M.B., Ferrell, L., Kerner, J., Kerlan, R.jr., Thaler, M.M. Sclerosing cholangitis associated with chronic cryptosporidiosis in a child with a congenital immunodeficiency disorder. Amer. X Gastroenterol. 1987 2 1196-1202... 

A 9-year-old child with a repaired myelomeningocele and congenital hydrocephalus who had undergone four previous shunt revisions in the past had two episodes of anaphylaxis during insertion of the ventriculoperitoneal shunt. The shunt tubing had been soaked in a solution of bacitracin 2500 U/ml. A skin prick test was positive for bacitracin. 

---