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

Introduction

Child abuse or maltreatment is a global problem that affects millions of children. It ranges from neglect and abandonment to physical and sexual abuse. ¹

It is a sensitive topic, and its diagnosis requires healthcare professionals to keep in mind pathologies that can mimic it. There are several differential diagnoses for physical abuse, including skin diseases.

The skin is the most common organ sustaining an injury during childhood, whether accidental or non-accidental. ² Differentiating between child abuse and skin diseases requires an understanding of various injuries and the recognition of anamnestic call signs that may indicate a form of maltreatment. ³

We describe the case of a child who had been abused since the first few months of his life and whose skin lesions were mistaken for skin disease.

Case presentation

Child A was two years and eight months old, the only son of a married couple whose mother was 21 years old. He lived with both parents in a large family with an average socioeconomic level.

He was admitted several times to the paediatric hospital from the age of ten months for repeated rectal bleeding, which was reported by his mother, but a recto-colic endoscopy and an upper digestive endoscopy with a biological check-up was normal. It should be noted that during his multiple hospitalizations, the child never presented with an episode of rectal bleeding or other symptoms that could indicate a specific pathology.

From the age of one year, the child was brought to the paediatric emergency room several times for bruises and fractures. The first fracture in the right forearm occurred at the age of 15 months, and the second fracture occurred at the age of 18 months in the homolateral wrist. The mother did not given a clear explanation of how these fractures occurred.

From the age of 27 months, the child was admitted to the hospital several times for repeated skin lesions in the form of wounds. According to the mother, these lesions occurred spontaneously. The skin biopsy requested by the treating physician showed an abnormality in the elastic fibres of the skin. This led the attending physician to suspect Ehlers-Danlos syndrome (EDS) and he was from this point labelled as a patient with EDS and treated as such. Subsequently, he was taken care of in the paediatric hospital on several occasions for linear wounds that were sutured.

At 32 months, he was hospitalized again for the management of wounds and craniofacial trauma causing spontaneous frontal and bi-palpebral swelling and bruising, according to his parents. It should be noted that the consultation in the emergency room was not immediate. The blood workup (blood count, haemostasis, an hydroelectrolytic workup) was normal.

During this admission and as he was about to be discharged, the child presented with a sudden injury to his left forearm at 1.00 am. According to the physical findings of the doctor on night call, the wound was linear with clean and regular edges measuring 4 cm on the posterior aspect of the lower third of the left forearm. The lesions were documented using photographs (Figure 1). At this point, the paediatric team suspected the diagnosis of child abuse and requested a forensic opinion.

OPEN IN VIEWER

Figure 1.

4 cm linear wound with sharp edges on the lower 1/3 of the posterior aspect of the left forearm.

The history provided by the parents interviewed separately revealed the absence of a coherent and logical explanation for the occurrence of different lesions, some of which are related to EDS. We also noted a discordance in the mechanism of blunt craniofacial trauma.

The medico-legal examination revealed a conscious child, with good physical constitution and normal growth. He was fearful and clung to his mother. He had significant swelling with extensive greenish, poorly limited frontal ecchymosis, and reddish-green ecchymosis of the lower eyelids. At the craniofacial level, he had a healed right linear sutured forehead wound in continuity with another linear sutured “Y” shaped wound. He also had temporal, parietal and neck scars that were well identified after shaving (Figure 2). He also had scars on the suprasternal level and the right hypochondrium.

OPEN IN VIEWER

Figure 2.

Multiple wound scars of the scalp.

On the posterior aspect of the trunk, there was a slightly hypertrophic linear medial paraspinal scar of 6 cm, a healing linear sutured wound of 12 cm at the left lumbar fossa with an underlying linear sutured wound scar of 7 cm, and a linear wound with simple and swollen edges at a sacral level of 6 cm (Figure 3).

OPEN IN VIEWER

Figure 3.

Dorsal and sacral wound scars.

The paediatric team sent photographs taken during the child's consultation in the emergency room for wound management. The analysis of these photos shows a simple horizontal linear wound on the posterior aspect of the trunk with a gaping cut in place. It ends with a superficial abrasion on the right side and extends downwards from its right extremity into another shorter horizontal linear wound ending in a rat's tail on the left side (Figure 4). There was also a second photograph showing a single linear gaping sacral wound on the left side and ending in a rat tail on the other side (Figure 5).

OPEN IN VIEWER

Figure 4.

Single cut wound of the sacral region with a rat tail.

OPEN IN VIEWER

Figure 5.

Simple cut wounds of the left lumbar region.

In the upper extremities, the patient had a recent linear sutured wound measuring 8 cm taking the entire posterior aspect of the left forearm. There were also two sutured wounds on the dorsal surfaces of both hands measuring 3 and 4 cm, and multiple linear scars staggered across the forearms (Figure 6).

OPEN IN VIEWER

Figure 6.

Linear sutured wound of 3.5 cm of the dorsal aspect of the right hand.

In the lower limbs, there was the presence of staggered linear keloid scars (Figure 7 and Figure 8).

OPEN IN VIEWER

Figure 7.

Multiple wound scars on the lower limbs.

OPEN IN VIEWER

Figure 8.

Multiple wound scars on the lower limbs.

We completed our forensic care with full skeletal radiographs that returned to normal. We also requested fundus and brain CT scans that could not be performed. We requested a psychiatric evaluation of the child, which was provided.

A judicial report was made urgently to the competent authority, who ordered the immediate hospitalisation of the child, a separation from his mother, the opening of a judicial investigation with the hearing of the parents, and a psychiatric evaluation for the mother. Unfortunately, this evaluation was performed only once and it concluded an absence of psychiatric abnormalities.

The child was followed up for several weeks during hospitalization, and no lesions or symptoms appeared. We also noted an improvement in the child's behaviour and development as he became happier and more open to other people.

The first genetic analysis performed did not detect any abnormalities responsible for EDS.

The Public Prosecutor's Office ordered protective measures for the child before his discharge from the paediatric hospital.

Discussion

We present the case of a child who was a victim of undiagnosed maltreatment since the age of 10 months and wrongly diagnosed with EDS.

EDS is a heterogeneous group of genetic diseases of connective tissue. It is characterised by hyper-extensible skin, abnormally mobile joints, and fragile vessels, from which bruises easily appear after minimal trauma. ⁴

The first full description of the syndrome was published in 1892 ⁵ and according to the International Classification of Ehlers-Danlos Syndromes in 2017, 13 subtypes are recognised. ⁶

Classic Ehlers-Danlos syndrome, also known as EDS 1 and 2, is the most common type. It usually affects the joints and the skin. Joint hypermobility affects both the large and small joints. Classic EDS, with a prevalence of 1 in 20,000, can be accurately diagnosed based only on family history and clinical examination.^7,8

Clinically, classic EDS is associated with both major and minor criteria. The major criteria (the presence of three of these criteria is essential for the diagnosis) are cutaneous hyperextensibility, extensive atrophic scars, and joint hypermobility, often assessed by the Beighton score, which affects large and small joints of variable severity. Genetic transmission is familial autosomal dominant in the majority of cases. The minor criteria include soft and velvety skin, molluscoid pseudotumours, subcutaneous spheroids, joint dislocations and dislocations, complications of hypermobility, skin haematomas, delayed motor development in children, and cardiovascular abnormalities that are generally not significant. ⁸

None of the above diagnostic criteria were observed in our patient. However, several arguments have pointed to physical abuse:

Child’s repeated hospitalizations.

Based on these arguments, we retained the diagnosis of child abuse in the form of Munchausen syndrome by proxy. Indeed, the symptomatology, in this case, ranging from rectal bleeding to ecchymosis and frank wounds to fractures, produced misleading clinical appearances and led to unnecessary medical explorations that contributed to abuse. The evolution of the severity of the symptoms gives us a clear idea of the psychological state of the mother, which is why the authorities have put the child under surveillance.

Therefore, the diagnosis of EDS was excluded, especially because of the absence of similar cases in the family and diagnostic criteria, in addition to the suspicious appearance, location and number of lesions, and the absence of genetic abnormalities in the genetic test performed.

Conclusion

Although child maltreatment is a global problem, it remains a misunderstood diagnosis that is not often mentioned by physicians, particularly paediatricians.

In this case, we wanted to emphasise the underestimation of this diagnosis by physicians despite the presence of several risk factors and/or symptoms or lesions evoking it.

It is important to remember that coordination between the treating physicians and the forensic physicians, as well as the social services, remains essential for optimal care of the child in cases of suspected child abuse based on a set of anamnestic, behavioural and clinical criteria.