Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria

Alkaptonuria is a rare metabolic disorder characterized by the accumulation of homogentisic acid. Its effects on central nervous system are well-recognized; however, cases pathologic acid deposition in peripheral less well-described. We report case 72-year-old man with prior history alkaptonuria presenting bilateral carpal tunnel and left-sided cubital symptoms. This note because patient demonstrated rapid onset symptoms due to pathology at multiple foci. (HGA), an incidence 1 250,000 million.1Garrod A.E. About alkaptonuria.Med Chir Trans. 1902; 85: 69-78Google Scholar Deposition HGA well-recognized system, but corresponding changes A presented acute-onset hand paresthesia awakening him nightly over 6 weeks. The accompanying weakness caused difficulty driving limited participation activities, such as bowls. reported that he had no issues either hand. His medical included chronic renal disease, previously undergone aortic valve replacement. Examination revealed thenar wasting adducted posture his right thumb. He decreased sensation median nerve left ulnar distributions, both tunnels were positive for Durkan Tinel tests. In addition test was patient. thumb adduction functional opposition, which exacerbated severe abductor pollicis brevii, well ulna-innervated musculature left. exhibited tenderness little ring finger A1 pulleys (Fig. 1). Radiographs showed preserved first carpometacarpal joint arthritic metacarpophalangeal joint. Neurophysiologic testing conduction delay, absent right. Further, there reduced ulna motor sensory potentials across elbows. underwent open decompressions. not subluxing situ. pulley releases performed fingers. decorticated fused position using locking plate. Following this, opponensplasty flexor digitorum superficialis (looped around carpi ulnaris alter line-of-pull). Widespread brownish staining intra- extra-articular tissues noted (including tendon sheath perineural elements), histopathologic sampling performed, confirming infiltration 2). After surgery, dorsal slab applied, therapy active exercises commenced after 2 days. During 6-week follow-up, well-matured scars bilaterally resolving observed. also good opposition side 3). Histopathology papillary hyperplasia, calcific debris, pigmented collagen consistent 4).Figure 4Histologic slide intraoperative samples demonstrating yellow-brown fibers.View Large Image Figure ViewerDownload Hi-res image Download (PPT) (an intermediate breakdown product tyrosine phenylalanine) complete failure its enzyme, homogentisate 1,2-dioxygenase. human described autosomal recessive pattern inheritance; it now recognized small subtype transmitted dominant fashion. Mutations may affect structure, function, or solubility resulting oxidization substrate polymer (benzoquinone) binds irreversibly fibers.2Yin E.S. Knispel J.D. McNiff J.M. Leventhal J.S. 54-year-old woman arthritis discoloration hands, ears, sclerae.Int J Dermatol. 2017; 56: 715-717Crossref Scopus (1) Google causes ocher-colored tissues, leading disorder’s alternate appellation endogenous ochronosis. Most patients present their third decade life characteristic areas pigmentation, sclera (Osler sign); ear cartilage; nasal, buccal, genital mucosa; palms soles along lines transgradience. Degenerative arthropathy clinically apparent fourth decade, particularly large joints, (such hips shoulders) spine. Altered tissue quality can lead spontaneous rupture ligaments tendons.3Manoj Kumar R.V. Rajasekaran S. Spontaneous ruptures alkaptonuria.J Bone Joint Surg Br. 2003; 883-886Crossref PubMed Although sequela, have been established. Regardless, exhibit broad range neurologic signs statistically significant greater prevalence extremity numbness, weakness, neuropathic pain; tinnitus hearing problems; visual blurring; tremors when compared healthy controls.4Alrawashdeh O. Alsbou M. Alzoubi H. Al-Shagahin Neurological assessment study findings 22 from Jordan.Neurol Int. 2016; 8: 6841Google Significant differences neurophysiologic studies between controls shown, thus likely be result vertebral degeneration foraminal stenosis. However, single generalized polyneuropathy axonal demyelinating types has described.4Alrawashdeh Central ocular aural dysfunction related material into distortion connective tympanic membrane orbital musculature. Radiographic include space narrowing, sclerosis, disc calcification. Hematoxylin eosin skin biopsies show crescentic-shaped fibers.5Laymon C.W. Ochronosis.AMA Arch Derm Syphilol. 1953; 67: 553-560Crossref (8) These granules seen endothelium, sweat glands, cartilage. treatment should multidisciplinary regular screening auditory acuity dermatologic review exclude differentials. Nonsurgical management includes anti-inflammatory medication, therapy, lifestyle modification, analgesia—failing arthroplasty indicated. require decompression. previously, did recall any impairment. Additionally, patient’s direct compression neuropathy, unlike majority alkaptonuria. spectrum symptoms, high index suspicion diagnosis, necessitate multimodal therapeutic approach. diagnosis directly impact our decision making modalities, this highlights risk developing compression, potentially necessitating transfers, therefore, early intervention required. increased compressions, other sites need screened well.