Short stature is a common paediatric problem affecting approximately 2% of children. Some of these children may have a GH deficiency while others do not meet the criteria for replacement treatment. It is very important when evaluating a child with short stature to take into account significant findings from the clinical examination such as onychodystrophy, leucoplakia and abnormal skin pigmentation of the skin. All the above in combination with abnormal haematological findings may indicate the presence of DC. In these cases, replacement treatment with GH, even when meeting the relevant criteria, should be done very cautiously because of the potential risk of developing haematological malignancy. The aim of this presentation is to heighten the degree of suspicion among all paediatric specialties when facing a child with short stature.
We report on a 10-year-old boy who attended the emergency department because of an acute gastroenteritis with bloody stools lasting for 3 days.
Routine laboratory investigation: complete blood count (white blood cell count 4×103/μl, Neutrophils (N) 51%, Lymphocytes (LY) 33%, Monocytes (Mo) 15%, haemoglobin 11 g/dl, haematocrit 32.3%, mean corpuscular volume 94.9 fl, mean corpuscular haemoglobin 32.4 pg, mean corpuscular haemoglobin concentration 34.1 g/dl, platelets 88×103/μl), biochemistry and coagulation screening were normal. Detailed physical examination revealed short stature (126 cm, below 3rd percentile), low weight (24 kg, below 3 percentile), head circumference (50 cm, below 3rd percentile), leucoplakia of the tongue and the buccal mucosa, bilateral blepharitis, abnormal skin pigmentation of the upper half of the trunk and onychodystrophy of both upper and lower extremities.
The patient is the first child of non-consanguineous healthy parents of Greek origin. He was born full term with a relatively low birth weight (2500 g). The perinatal period was uneventful. At the age of 2 years he exhibited leucoplakia of the tongue and onychodystrophy. Biopsy of oral lesions revealed traumatic ulcer and no further evaluation was suggested. Abnormal skin pigmentation of the upper half of the trunk was added at the age of 6 years. At that age, because of short stature, the boy underwent detailed endocrinological evaluation and GH deficiency was revealed. He was placed on treatment with GH (4 mg subcutaneously weekly) until the time he came to our attention.
With the working diagnosis of an inherited bone marrow failure syndrome he was admitted to our clinic for further evaluation.