From Surgery to Hematology: Fanconi Anemia in 13 Y/M
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
Fanconi anaemia (FA) is an inherited disorder of impaired DNA repair. Characterised clinically by somatic, haematological and oncological anomalies, most often manifesting in childhood, the condition is cytogenetically typified by spontaneous and induced chromosome breakage and is usually inherited in an autosomal recessive manner.

A 13-year-old boy had pre-axial polydactyly associated with triangular face without abnormalities in psychomotor development. He sometimes complains of dizziness and headaches. At the age of 12, he expressed the wish to repair his polydactyly and a consultation in paediatric surgery was made. During his pre-anaesthetic visit, a blood count reveals a normocytic normochromic anaemia which was treated by martial supplementation in the surgery service. After one year of follow-up, in view of the persistence of the anaemia, the paediatric surgery consultation refers him for haematological advice.

On clinical examination, patient presents a height equal to the bottom end of the normal range (3rd percentile) and a weight below the 3rd percentile. He also presents an intense pallor of the mucous membranes without any sign of intolerance. Examination of the musculoskeletal system shows pre-axial polydactyly opposite the right radial spine, and he also presents discrete facial dysmorphic with hypertelorism and triangular face. Hearing was preserved.

The chromosomal fragility test carried out with mitomycin C allowed to retain the diagnosis of Fanconi Anaemia showing the presence of chromosomal breakage in 92% of metaphases with images and figures classically observed in Fanconi Anaemia.

A regular follow-up was established in patient with appointments every two months. This follow-up also included emergency consultations in case of complaints that were not well tolerated, usually resulting in a transfusion of red blood cells. On the orthopaedic level, the cure of polydactyly will only be considered after stabilizing the anaemia with a target of 9 g/dl before any surgical act. On the infectious level, the patient presented a post-traumatic skin infection that required amoxicillin-based antibiotic therapy with good evolution.The search for a solid tumour is performed at each appointment with emphasis on the head and neck regions. This search is supplemented by imaging every 6 months.

Source: https://www.scirp.org/journal/paperinformation.aspx?paperid=104608
Like
Comment
Share