Developmental delays

Leigh s syndrome (subacute necrotizing encephalomyelopathy) is characterized by a variable combination of clinical abnormalities including cerebellar ataxia, developmental delay, mental regression, deafness, optic atrophy, hypotonia, and... 

Cryptogenic epilepsies In these epilepsies the seizures are the result of an underlying neurologic disorder that is often ill-defined or undocumented. Neurologic functions are often abnormal or developmentally delayed in patients with cryptogenic epilepsies. 

It is known that an association exists between maternal UTI during pregnancy and fetal death, mental retardation, and developmental delay.24 Because of this known association, and because up to 7% of pregnant women have an asymptomatic bacteriuria that may progress to pyelonephritis, screening is necessary. In patients with significant bacteriuria, whether symptomatic or asymptomatic, treatment is recommended to avoid the complications discussed above. In the majority... 

Use of succimer in the prevention of developmental delay, slowed growth, and behavior disorders in toddlers... 

Older child developmental delay, mental retardation, recurrent vomiting. Odor of sweaty socks ... 

Older child (2-5 years) recurrent vomiting, metabolic acidosis, hypoglycemia and progressive lethargy Speech delay developmental delay usually is mild... 

Typically fatal in infancy. Profound developmental delay in rare surviving infant... 

Mevalonate kinase deficiency. Mevalonate kinase and farnesyl-diphosphate synthase are localized in the peroxisome and are involved in the synthesis of isoprenoids. Mevalonate kinase deficiency causes severe developmental delay, dysmorphic features and early death. Mevalonate deficiency has also been observed in the hyperimmuno-globulinemia-and periodic fever syndrome. 

Most patients with pyruvate-carboxylase deficiency present with failure to thrive, developmental delay, recurrent seizures and metabolic acidosis. Lactate, pyruvate, alanine, [3-hydroxybutyrate and acetoacetate concentrations are elevated in blood and urine. Hypoglycemia is not a consistent finding despite the fact that pyruvate carboxylase is the first rate-limiting step in gluconeogenesis. 

Defects of the Krebs cycle. Fumarase deficiency was reported in children with mitochondrial encephalomyop-athy. Usually, there is developmental delay since early infancy, microcephaly, hypotonia and cerebral atrophy, with death in infancy or early childhood. The laboratory hallmark of the disease is the excretion of large amounts of fumaric acid and, to a lesser extent, succinic acid in the urine. The enzyme defect has been found in muscle, liver and cultured skin fibroblasts [16]. 

Coenzyme Q10 (CoQlO) deficiency. This mitochondrial encephalomyopathy has three main clinical presentations. A predominantly myopathic form is characterized by the triad of exercise intolerance, recurrent myoglobinuria, and CNS involvement. A more frequent ataxic form is dominated by ataxia and cerebellar atrophy, variously associated with weakness, developmental delay, seizures, pyramidal signs, and peripheral neuropathy, often simulating spinocerebellar atrophy. A third presentation with fatal infantile encephalomyopathy and renal involvement, has been described in two families. The biochemical defect (or defects) presumably involve different steps in the biosynthesis of CoQlO, but are still unknown, as are the molecular defects. Diagnosis, however, is important because all patients - and especially those with the myopathic and infantile forms - benefit from CoQlO supplementation [13,14]. 

De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A. and Harik, S. I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypo-glycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325 703-709,1991. 

Significant concentrations of cyanotoxins have been found to accumulate in the tissues of macroinvertebrates such as mollusks and crustaceans, presenting an indirect route of exposure for invertebrates, fish, and aquatic mammals at higher trophic levels (Negri and Jones 1995). In natural systems, mortality among benthic invertebrate herbivores is probably low because most bloom-forming bacteria are planktonic and only periodically come into contact with the benthos. Nevertheless, Kotak et al. (1996) determined that enhanced mortality of snails at the end of a bloom cycle in Canadian lakes was due to consumption of Microcystis cells that had formed a scum on the surface of macrophytes. Oberemm et al. (1999) found that aqueous microcystins, saxitoxins, and anatoxin-a all resulted in developmental delays in fish and salamander embryos. Interestingly, more severe malformations and enhanced mortality were observed when larvae were exposed to crude cyanobacterial extracts than to pure toxins applied at natural concentrations (Oberemm et al. 1999). 

A child with a known inherited disorder, a birth defect, mental retardation, or developmental delay. 

A 6-month-old infant is seen in the emei ency room with a fractured rib and subdural hematoma. The child s hair is thin, colorless, and tangled. His serum copper level is 5.5 nM (normal for age, 11-12 nM). Developmental delay is prominent. A deficiency of vhich enzyme activity most dosely relates to these symptoms ... 

A 6-year-old boy has a family history of mental retardation and has developmental delay and some unusual facial features. He is being evaluated for possible Fragile X syndrome. Which of the following would be most useM in helping to establish the diagnosis ... 

Faulty Wiring and/or Developmental Delay. Remember that neurotransmission moves through brain circuits. Some mental illnesses may be caused by misconnections in the circuitry that can result in the brain s equivalent of crosstalk that occurs when telephone lines are crossed. Examples of this problem are the so-called neurodevelopmental disorders such as autism, certain forms of mental retardation, and possibly schizophrenia. 

The disease develops at 3 to 6 months of age and it is characterised by developmental delay, eczema, hyperactivity and mental retardation. Newborn babies are routinely screened for PKU in many countries. Treatment is a phenylalanine-restricted diet and supplementation with tyrosine. 

No reproductive toxicity was found in rats exposed to 0.50g/kg/day for two generations. A reduction in body weight gain and changes in liver and kidney weights were observed in the Eo and Ei parent rats. A microscopic liver lesion occurred in the Fi rats, with a greater prevalence and severity in the females. In developmental toxicity studies signs of fetotox-icity and developmental delays occurred only at maternally toxic doses. 

Exposure of pregnant mice to near-lethal levels of 15 00 ppm was maternally toxic and caused increased fetal mortality, reduced weight, delayed ossification, and an increased incidence of cleft palate. At 500 ppm there was reduced maternal and fetal weight gain. No developmental or maternal toxicity was seen at 100 ppm. Similar studies in rats reported developmental delays only at doses that were maternally toxic. No significant adverse effects on reproductive parameters were found in rats exposed for three generations at doses that produced severe toxicity. ... 

Inhalation exposure of female rats before mating and during pregnancy at 2100 ppm caused an increased incidence of skeletal and soft tissue variation in the offspring, indicative of developmental delay no persistent detrimental effects were found in the offspring at 12 months of age. " ... 

A 7-year-old boy is referred by his school nurse for evaluation of hyperactivity accompanied by developmental delays in speech and motor skills. The nurse is concerned about his IQ tests, which indicate mild mental retardation. Family history indicates that his mother and maternal aunt both have learning disabilities and one of his maternal uncles lives in a group home for the mentally retarded. Physical examination shows that the boy is normo-cephalic and normally pigmented. 

A 2-year-old boy in whom Down syndrome was diagnosed when he was an infant comes in for a check-up. Although he is developmentally delayed indicating potential mental retardation, he is exhibiting some clinical features that are inconsistent with Down syndrome. These features include coarse facial features, small stature, radiographic evidence of kyphoscoliosis, widening of the ribs, and malformed vertebrae. 

A 6-year-old boy shows signs of significant developmental delay. After interviewing the boy s parents, a family history of varying degrees of cognitive impairment becomes apparent specifically, the patient s father, maternal grandfather, aunt, uncle, and several cousins are affected. 

Score of 4 = Subtle variation in morphology, recoverable developmental delay or anomaly. 

Younger children with manic symptoms tend to have severe functional impairment and comorbid psychopathology such as anxiety dysregulation, disruptive behaviors, and developmental delays that further complicate their clinical picture. In addition, these children may have mood symptoms that merge with other disorders, making manic episodes difficult to define. Irritability is part of the clinical picture of depression, anxiety, attention-deficit hyperactivity disorder (ADHD), and oppositional defiant disorder (ODD). Poor concen-... 

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