Child abuse misdiagnosed as Ehlers-Danlos syndrome: A case report

Area of Science:

• Pediatrics
• Medical Ethics
• Forensic Medicine

Background:

• Child abuse diagnosis requires physician awareness of conditions that mimic abuse symptoms.
• Ehlers-Danlos syndrome, a group of inherited disorders affecting connective tissues, can present with symptoms like bruising and joint hypermobility, potentially complicating abuse diagnosis.

Observation:

• A two-year-old child presented with multiple traumas attributed to accidental and spontaneous occurrences.
• Initial diagnosis suggested Ehlers-Danlos syndrome based on skin biopsy findings.
• A subsequent admission revealed a bleeding wound, prompting further investigation and a medico-legal opinion.

Findings:

• The case underscores the diagnostic challenges in differentiating physical abuse from connective tissue disorders.
• Medical examination ultimately confirmed physical abuse in the child, despite the initial Ehlers-Danlos syndrome diagnosis.

Implications:

• Physicians must maintain a high index of suspicion for child abuse, even in the presence of seemingly explainable medical conditions.
• Integrated medico-legal and clinical evaluations are crucial for accurate diagnosis in suspected child abuse cases.
• This case emphasizes the need for comprehensive assessment to protect vulnerable children from harm.