Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?
A case of 42-year-old right-handed male smoker presented with predominantly distal progressive asymmetrical weakness of all limbs, more on left, since 2 years. Also, slurred speech, difficult chewing and swallowing, choking spells, nasal regurgitation, limb cramps were present since 4 months. There were no paresthesias, dyspnea, trauma, bladder, and bowel difficulties. Examination revealed short neck, low posterior hairline, and restricted neck movements on lateral flexion with negative compression test. Speech was low volume, hypernasal with preserved language function. Bilateral atrophied thenar and hypothenar muscles, brisk DTR, extensor planters, fasciculation's of tongue, arm and thigh, absent jaw and gag reflex were evident. Sensory examination was normal. X-ray cervical spine revealed multiple fused vertebrae with wasp-waist sign. On MRI multiple block vertebrae C4-D1, butterfly vertebrae D2-3, cervical scoliosis without cord compression, wine glass appearance with loss of fibers of posterior third of internal capsule were evident [Figures and ]. The NCV-EMG study showed decreased amplitude in both facial nerves, denervation involving muscles of all limbs suggesting anterior horn cell disease. Digging into family history did not reveal any significant information. Final diagnosis was made as Klippel-Feil anomaly type I with definite ALS with bulbar involvement, using revised El-Escorial world federation of neurology criteria. Other possible differentials were excluded by relevant history, radiological, electrodiagnostic, biochemical (viz. CSF-complete analysis, thyroid profile, lipid profile, S. calcium, FBS, T. proteins) and hematological (CBC, ESR) investigations.