A problem in diagnosis of primary versus secondary microcephaly

Qazi, Qutub H.; Reed, T. Edward

doi:10.1111/j.1399-0004.1973.tb01121.x

Cited by 34 publications

(25 citation statements)

References 5 publications

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“…These results are in concordance with the findings of Qazi and Reed (1973). In contrast the data of the pathogenetic classification indicated that as a whole and as compared with IMC, participants in the MMC group showed a higher mean IQ, and a lower prevalence of profound LD or epilepsy.…”

Section: Discussionsupporting

confidence: 77%

“…However, this result needs further investigation to determine whether it is a general characteristic of MC or a chance effect. In most studies (Qazi and Reed 1973, Opitz and Holt 1990, Scheffer et al 1992, MC is usually viewed as primary (when environmental factors are excluded) or secondary. Given the heterogeneous nature of a sign which comprises such a diverse group of disorders, marked variations would be expected.…”

Section: Discussionmentioning

confidence: 99%

“…Only Qazi and Reed (1973) found that epilepsy is four times more frequent in individuals with SMC. In addition, seizures have been reported in one-third of those with PMC (Baraitser et al 1983).…”

mentioning

confidence: 99%

“…secondary, MC. However, others denied the value of head circumference at birth and classified MC as either primary MC (PMC), of genetic origin diagnosed in the first months of life after the exclusion of all environmental factors (Scheffer et al 1992), or as secondary MC (SMC) which could stem from various environmental causes (Holmes et al 1972, Qazi and Reed 1973, Scheffer et al 1992). In addition, as the etiology of many congenital abnormalities is still unknown, there has been an emphasis on pathogenetic classification (Czeizel 1997).…”

mentioning

confidence: 99%

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Association of epilepsy with different groups of microcephaly

Abdel-Salam

Halász

Czeizel

2000

Develop Med Child Neuro

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Sixty‐six participants (33 males, 33 females) with microcephaly (MC), age range from 2 to 19 years old, were evaluated. MC was classified pathogenetically into isolated MC (IMC) and multiple MC (MMC) and classified etiologically into primary MC (PMC) and secondary MC (SMC). Both IMC and MMC were further classified. Overall prevalence of epilepsy was 40.9%. Furthermore, there was a significantly higher prevalence of epilepsy in males. Main seizure type was generalized tonic‐clonic seizures. Generally, learning disability (LD) was diagnosed in 93.9% and profound LD was evident in 43.9% of participants. There was an inverse correlation between severity of epilepsy and IQ but a positive correlation between severity of epilepsy and degree of LD. Differences in the success rate between monotherapy and polytherapy or response to antiepileptic drugs were not observed. Results suggest that epilepsy may be associated with the lower cognitive ability of the participants with microcephaly. The pathogenetic classification proposed is of value in delineating the prevalence of epilepsy and LD in the different varieties of MC as compared with the etiological classification.

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Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Association of epilepsy with different groups of microcephaly

Abdel-Salam

Halász

Czeizel

2000

Develop Med Child Neuro

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“…24 The second study found that epilepsy was 4 times more common in postnatal onset microcephaly. 25 Microcephaly is a significant risk factor for medically refractory epilepsy (MRE). [26][27][28] In a Class III study of 30 children, microcephaly was found in 58% of those with MRE compared to 2% in whom seizures were controlled (odds ratio 67.67; p Ͻ 0.001).…”

mentioning

confidence: 99%

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

et al. 2009

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Objective: To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Methods:Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a 4-tiered scheme of evidence classification. Results:Microcephaly is an important neurologic sign but there is nonuniformity in its definition and evaluation. Microcephaly may result from any insult that disturbs early brain growth and can be seen in association with hundreds of genetic syndromes. Annually, approximately 25,000 infants in the United States will be diagnosed with microcephaly (head circumference ϽϪ2 SD). Few data are available to inform evidence-based recommendations regarding diagnostic testing. The yield of neuroimaging ranges from 43% to 80%. Genetic etiologies have been reported in 15.5% to 53.3%. The prevalence of metabolic disorders is unknown but is estimated to be 1%. Children with severe microcephaly (head circumference ϽϪ3 SD) are more likely (ϳ80%) to have imaging abnormalities and more severe developmental impairments than those with milder microcephaly (Ϫ2 to Ϫ3 SD; ϳ40%). Coexistent conditions include epilepsy (ϳ40%), cerebral palsy (ϳ20%), mental retardation (ϳ50%), and ophthalmologic disorders (ϳ20% to ϳ50%).Recommendations: Neuroimaging may be considered useful in identifying structural causes in the evaluation of the child with microcephaly (Level C). Targeted and specific genetic testing may be considered in the evaluation of the child with microcephaly who has clinical or imaging abnormalities that suggest a specific diagnosis or who shows no evidence of an acquired or environmental etiology (Level C). Screening for coexistent conditions such as cerebral palsy, epilepsy, and sensory deficits may also be considered (Level C). Further study is needed regarding the yield of diagnostic testing in children with microcephaly. Neurology Microcephaly is an important neurologic sign but there is nonuniformity in the definition of microcephaly and inconsistency in the evaluation of affected children.1,2 Microcephaly is usually defined as a head circumference (HC) more than 2 SDs below the mean for age and gender.2,3 Some academics have advocated for defining severe microcephaly as an HC more than 3 SDs below the mean.4-7 Other than where specified, this parameter uses the usual definition of microcephaly. Recommended methods for HC measurement are described in appendix 2.If HC is normally distributed, 2.3% of children should by definition be microcephalic. However, published estimates for HC ϽϪ2 SD at birth are far lower, at 0.56% 8 and 0.54%. 9 The difference may be accounted for by a non-normal distribution, postnatal development of microcephaly, or incomplete ascertainment. Severe microcephaly would be expected Appendices e-1 through e-6 and references e1-e12 are available on the Neurology Web site at www.neurology.org.

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Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome

Frydman

Jäger‐Roman

Vries³

et al. 1993

Am. J. Med. Genet.

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We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

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A problem in diagnosis of primary versus secondary microcephaly

Cited by 34 publications

References 5 publications

Association of epilepsy with different groups of microcephaly

Association of epilepsy with different groups of microcephaly

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome

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