Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female

Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands. ALD primarily affects males; however, females may develop milder symptoms that may be difficult to recognize. The present report describes a 35-year-old female who experienced a feeling of heaviness in the upper and lower limbs, pain in both knees, and difficulty climbing stairs, running, and jumping. Clinical examination revealed decreased sensitivity in the feet, particularly to touch. Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally. Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal. After two years of progressing symptoms, the patient was reevaluated and plasma levels of VLCFA were found to be elevated. Seven years prior to this finding, the patient had been found to be heterozygous for the missense mutation c.1679C T, p.Pro560Leu on the ABCD1 gene (ATP-Binding Cassette subfamily D1). In conclusion, the patient's symptoms could be attributed to ALD. The present case underlines the importance of reevaluating family history in women presenting with vague neurological symptoms. 1. Introduction Adrenoleukodystrophy (ALD) is an X-linked inherited condition, primarily affecting the central nervous system (CNS) and the adrenal glands [1]. The symptoms vary from mild impaired vibration sensation in lower extremities to progressive paralysis in all four limbs. Symptoms may also include adrenal insufficiency [2]. The present case presents a female with vague neurological symptoms attributed to ALD. 2. Method The present patient has given her informed consent to participate in this research project. Therefore, it is not relevant to get approval from The National Danish Committee on Health Research Ethics (Videnskabsetisk Komité, VEK). 3. Case Report A 35-year-old Caucasian, right-handed female had for 1.5 months experienced a feeling of heaviness in the upper and lower limbs, pain in both knees, and difficulty climbing stairs, running, and jumping. The patient also had balance problems. She worked in a nursing home, but due to her symptoms she was only able to work part time. Clinical examination revealed normal muscle strength and normal muscle tonus in the arms and legs. There were no muscular atrophy and normal gait. There was decreased sensitivity in the feet, particularly to touch.