Literature DB >> 16283350

delta-Storage pool disease: a pitfall in the forensic investigation of sudden anal blood loss in children: a case report.

K De Munnynck1, C Van Geet, R De Vos, W Van de Voorde.   

Abstract

We present the case of a 3.5-year-old boy with sudden anal blood loss at school. Sexual abuse was suspected, and, apart from anal fissures seen on sigmoidoscopy, no other clinical signs of any sort of disorder were present. As no medical explanation for the blood loss could be given, penetrating anal trauma was suggested. During follow-up consultations, there were complaints of occasional blood loss. Platelet aggregation tests and electron microscopy finally helped diagnose a delta-storage pool disease which is a rare haemostatic disorder involving the dense granules of the platelets. Although exclusion of well-known blood diseases through routine laboratory testing is a common practice in children with sudden blood loss, this case illustrates the value of more specialised investigation both from a diagnostic and forensic point of view.

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Year:  2005        PMID: 16283350     DOI: 10.1007/s00414-005-0053-y

Source DB:  PubMed          Journal:  Int J Legal Med        ISSN: 0937-9827            Impact factor:   2.686


  18 in total

1.  Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases.

Authors:  N Pujol-Moix; A Hernández; G Escolar; I Español; F Martínez-Brotóns; J Mateo
Journal:  Haematologica       Date:  2000-06       Impact factor: 9.941

2.  Delta-storage pool disease in infancy with absence of blood serotonin associated with psychomotor retardation.

Authors:  G Engelmann; E Morgenstern; N Wolf; E Mayatepek
Journal:  Pediatr Hematol Oncol       Date:  2001 Jul-Aug       Impact factor: 1.969

Review 3.  Child abuse and neglect.

Authors:  L S Wissow
Journal:  N Engl J Med       Date:  1995-05-25       Impact factor: 91.245

4.  Genital and anal conditions confused with child sexual abuse trauma.

Authors:  J Bays; C Jenny
Journal:  Am J Dis Child       Date:  1990-12

5.  Suffocation and poisoning--the hard-hitting side of Munchausen syndrome by proxy.

Authors:  B Vennemann; T Bajanowski; B Karger; H Pfeiffer; H Köhler; B Brinkmann
Journal:  Int J Legal Med       Date:  2004-12-01       Impact factor: 2.686

6.  Pitfalls in the diagnosis of child sexual abuse.

Authors:  P Chariot; C Rey; P Werson
Journal:  J Clin Forensic Med       Date:  1999-03

7.  Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency.

Authors:  H J Weiss; B Lages; W Vicic; L Y Tsung; J G White
Journal:  Br J Haematol       Date:  1993-02       Impact factor: 6.998

8.  Anal and perianal abnormalities in prepubertal victims of sexual abuse.

Authors:  D Muram
Journal:  Am J Obstet Gynecol       Date:  1989-08       Impact factor: 8.661

9.  Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency.

Authors:  A Shalev; G Michaud; S J Israels; A McNicol; S Singhroy; E M McMillan; J G White; C J Witkop; W L Nichols; A H Greenberg
Journal:  Blood       Date:  1992-09-01       Impact factor: 22.113

10.  Perianal findings in prepubertal children selected for nonabuse: a descriptive study.

Authors:  J McCann; J Voris; M Simon; R Wells
Journal:  Child Abuse Negl       Date:  1989
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