Search

Factitious disorder imposed on another (FDIA) and malingering by proxy (MAL-BP) are two forms of underreported child maltreatment that should remain on physicians' differential. This case of a 2-year-old boy, which spans 6 years, reveals the complexity in and difficulties with diagnosis. Key features include the patient's mother using advanced medical jargon to report multiple disconnected concerns and visits to numerous providers. As a result, the patient underwent many investigations which often revealed normal findings. FDIA was suspected by the paediatrician, especially following corroboration with the child's day care and past primary health care provider. This case demonstrates the possible overlap in diagnoses, which are characterized by a lack of consistent presentation and deceitful caregivers, often complicated by true underlying illness. The authors use clinical experience and limited existing literature to empower paediatricians to confidently diagnose and report FDIA and MAL-BP to limit future harm to children. [ABSTRACT FROM AUTHOR]

Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

Factitious disorder imposed on another (FDIA) and malingering by proxy (MAL-BP) are two forms of underreported child maltreatment that should remain on physicians' differential. This case of a 2-year-old boy, which spans 6 years, reveals the complexity in and difficulties with diagnosis. Key features include the patient's mother using advanced medical jargon to report multiple disconnected concerns and visits to numerous providers. As a result, the patient underwent many investigations which often revealed normal findings. FDIA was suspected by the paediatrician, especially following corroboration with the child's day care and past primary health care provider. This case demonstrates the possible overlap in diagnoses, which are characterized by a lack of consistent presentation and deceitful caregivers, often complicated by true underlying illness. The authors use clinical experience and limited existing literature to empower paediatricians to confidently diagnose and report FDIA and MAL-BP to limit future harm to children. [ABSTRACT FROM AUTHOR]