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Spontaneous bilateral intraorbital hematoma is a rare complication of sickle cell disease in children. Imaging examinations are of paramount importance in the diagnosis and conditioning of the management processes in order to avoid complications that can compromise the visual function prognosis. Spontaneous orbital hematoma can be the initial prese...
Citations
... respectively and comparable HbF levels. 11,[25][26][27] The expression of HbF and its distribution in RBCs is regulated by elements linked to β-globulin complex and are associated with specific β-globin haplotype and trans-acting elements associated with BCL11A and HBS1L-MYB intergenic region on chromosome 2p16 and 6q23, respectively. 22 BCL11A is a critical transcriptional factor expressed in hematopoietic tissues which control HbF switching through interaction with GATA1; a DNA-binding zinc finger motif. ...
... However, the available case reports indicates that the majority of patients present with scalp swelling often with involvement of unilateral and seldom bilateral periorbital oedema. 27 The index patient presented with typical manifestation of ASHS in agreement to other reported cases across countries and ethnicities. 12,30 There is no any confirmed predilection of specific skull bone, however, of the majority of reported cases, frontal bone appears to be the most commonly affected for reasons which remains largely unknown. ...
Key Clinical Message
Sickle cell disease (SCD) rarely presents with acute soft head syndrome (ASHS) often posing a diagnostic dilemma. Recovery is typically spontaneous, however, in the context of lack of awareness and limited brain imaging it could potentially lead to poor outcome.
Abstract
ASHS is a rare complication of SCD, invariably occurring near puberty with hitherto elusive pathogenic mechanisms. ASHS often resolves spontaneously on conservative management, however, lack of awareness in the context of limited access to brain imaging could pose diagnostic challenges resulting in inappropriate management and untoward outcome. We present a case of a teenager who presented with subtle symptoms for which the diagnosis of sickle cell anemia (SCA) was delayed until he developed ASHS. LTM was a 16 years old boy with a history of recurrent joints pain since the age of 6 years, with a family history of SCA, but had initial negative sickling test. He presented with episodes of multiple joints pain, unprovoked scalp and left orbital swelling, low‐grade fever and mild headache without any evidence for bleeding diathesis. The diagnosis of SCA was confirmed by hemoglobin electrophoresis. Computed tomography (CT) scan of the head revealed subgaleal heamatoma (SGH) and intraorbital haematoma without intracranial hemorrhage (ICH). He was managed conservatively with analgesics and hydration together with antibiotics for associated sepsis with complete resolution of clinical symptoms within 2 weeks. This case represents a rare scenario for a relatively mild SCA phenotype presenting with ASHS whose diagnosis poses an enigma in the resource‐limited contex. It is therefore, prudent to recognize ASHS to avoid judicious interventions which could potentially result in untoward clinical outcome.
... respectively and comparable HbF levels. 11,[25][26][27] The expression of HbF and its distribution in RBCs is regulated by elements linked to β-globulin complex and are associated with specific β-globin haplotype and trans-acting elements associated with BCL11A and HBS1L-MYB intergenic region on chromosome 2p16 and 6q23, respectively. 22 BCL11A is a critical transcriptional factor expressed in hematopoietic tissues which control HbF switching through interaction with GATA1; a DNA-binding zinc finger motif. ...
... However, the available case reports indicates that the majority of patients present with scalp swelling often with involvement of unilateral and seldom bilateral periorbital oedema. 27 The index patient presented with typical manifestation of ASHS in agreement to other reported cases across countries and ethnicities. 12,30 There is no any confirmed predilection of specific skull bone, however, of the majority of reported cases, frontal bone appears to be the most commonly affected for reasons which remains largely unknown. ...
