Case Presentation: Almost 3 yo female presented to the ED) with multiple contusions, finger fractures and abrasions. Mother sought care for evaluation of a left occipital swelling that she noticed following the patient’s stay with a respite-care. The worker denied injury. When questioned by the social worker, the mother mentioned that her daughter did not exhibit pain with injury.
The patient’s hx was significant for an arm fracture occurring several months prior. At that time the patient ‘caught her arm in a chair’ and fell from a bed to the carpet. CPS placed the infant in foster care for NAT.
Developmental history was significant for global delay, mild, but progressing rapidly. A video of her daughter at her 2nd birthday party showed her speaking, walking and using her hands. PE in the ED showed an underweight child with prominent occipital swelling, facial and posterior scalp abrasions, and several discolored, angulated and bleeding fingers. Neurology exam revealed an agitated, non-verbal, non-ambulating, posturing supine child who was not oriented and did not track.
Radiographs showed scalp hematoma without fractures and bilateral finger distal phalanx fractures and healed fracture of the left radius. CT of the brain showed enlarged ventricles and cerebral volume loss.
Discussion: Hospital Medicine, Neurology and Genetics were consulted. Differential diagnosis was broadened to include Aicardi-Gutieres syndrome, Kearn-Sayres, Rett’s syndrome, autism, encephalopathy and CNS folate deficiency. Initial screening studies were unexceptional, including LP to assess lactate, pyruvate, neopterin, tetrahydrobyopterin, folate receptor antibodies, amino acids, immunoglobulins, plasma folate, EEG, muscle biopsy, MRI and chromosomal microarray and MECP2 gene. Because CSF 5-methyltetrafolate was low, plasma folate was normal, CSF antibodies were negative and CSF immunoglobulins were negative, a diagnosis of CNS folate deficiency was made.
Folinic acid was initiated along with Aripirazole was also begun to modify self-mutilation and autistic behaviors. The patient was transferred to the Biobehavioral unit to reinforce behavioral modification techniques. She was placed on a milk-free diet.
CSF Folate Deficiency is associated with low levels of 5-methyltetrahydrofolate in the CSF with normal levels in the plasma. Signs and symptoms include autistic features, agitation, polyneuropathy, demyelination, ataxia, abnormal speech, insomnia, hypotonia and fronto-temporal atrophy. Typical features present from age 4-6 months, but may develop later. Possible causes include folate receptor blocking antibodies, folate transport deficiency and immune response to folate receptors from milk. Folate is a B-complex vitamin that has a role as a coenzyme in the ‘repair of the genome, regulation of gene expression, amino-acid metabolism, myelin formation and neurotransmitter synthesis’ (2).
Conclusions: After treatment, the patient was ambulating, speaking simple sentences, and refraining from self-injurious behaviors. Three years later, she attends special education classes. Repeat CSF folate levels are normal.
Global regression and self-mutilation can be secondary to a multitude of psychological, genetic, immune, mitochondrial and enzymatic disorders requiring investigation by a panoply of medical specialists. CFD should be included in the differential diagnosis.
To cite this abstract:Solomon, DM; Gage, S. ENZYME DEFICIENCY PRESENTING AS NON-ACCIDENTAL TRAUMA. Abstract published at Hospital Medicine 2019, March 24-27, National Harbor, Md. Abstract 468. https://www.shmabstracts.com/abstract/enzyme-deficiency-presenting-as-non-accidental-trauma/. Accessed August 17, 2019.