PubMed · 1073024
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G Vilhes. 1975-07-02. [Hemostasis].. https://pubmed.ncbi.nlm.nih.gov/1073024/
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In children with head injuries the severity of the neurological symptoms should concord with the patient's history and signs of neurotrauma on examination. Discrepancies between the (hetero)anamnesis and physical examination on the one hand and neurological findings on the other may indicate child abuse. The presence of both old and new intracranial haemorrhages in the absence of proportional trauma is generally considered as evidence for child abuse. However, these symptoms may also be the first manifestation of a congenital coagulation disorder. Three children, two girls aged 8 and 5 months and a boy aged 6 months were presented with alarming neurological symptoms due to intracranial haemorrhages without external signs of head trauma. The first girl had 'shaken baby' syndrome while the other 2 had congenital coagulation disorders (haemophilia B and factor V deficiency, respectively). All three recovered, the last two with remaining one-sided neurological deficits. Child abuse and congenital coagulation disorders may present with similar neurological symptoms and radiological findings. In these patients coagulation tests are mandatory and--if abnormal--enable early substitution of deficits and prevent inappropriate suspicion or accusation of caretakers.
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The incidence of the specific component deficiencies in various ethnic groups is not known, although there appears to be an ethnic predilection for C6 and C8alpha-gamma deficiencies in blacks, whereas C7 and C8beta deficiencies are predominantly noted in Caucasians. Infectious diseases, particularly recurrent meningococcal infections, are observed more commonly with late component deficiencies. In the current study, we have simplified the PCR technique by using site-directed mutagenesis and designer primers in a cohort of Israeli Moroccan Jewish blood donors to ascertain allele frequency in this ethnic group, which, based on earlier studies, was considered to be at risk for C7 deficiency. The total mutant allele frequency in this ethnic cohort was 1.1% of a total of 365 healthy Israeli Moroccan Jews, including one homozygote. The identification of mutant alleles was efficient and inexpensive, and hence a large cohort was studied. The finding of complement deficiency identifies individuals at risk for Neisserial infections, which are known to be potentially life-threatening. Conversely, when a patient of Moroccan ancestry is diagnosed with a Neisserial infection, it is important to determine the complement status.