Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?
Thirty-eight-year-old right-handed smoker male presented with progressive slurring of speech, difficulty in chewing and swallowing since 8 months. He complained of choking spells, nasal regurgitation, nonradiating neck pain, weakness and atrophy of right thumb and index finger along with muscle twitching in all limbs. There were no paresthesias, dyspnea, trauma, bladder, and bowel difficulties or significant family history. Examination revealed short neck, low posterior hairline, kyphoscoliosis with convexity to right, restricted neck movements on lateral flexion and extension with negative compression test. He had preserved language function with slurred, hypernasal speech. His right soft palate was sagging with absent gag reflex. Bilateral thenar and hypothenar muscles were atrophied. Fasciculation's were present in tongue, biceps, triceps, pectorals, and quadriceps. Brisk limb Deep Tendon Reflexes, extensor planters with normal sensory examination were present. Jaw jerk was absent. Magnetic resonance imaging (MRI) cervical spine revealed right kyphoscoliosis, partial fusion of C3-4 without cord compression and butterfly vertebra at C4 []. The Nerve Conduction Velocity-Electromyography (NCV-EMG) study showed low CMAP (Compound Motor Action Potential) in both facial nerves and denervation potentials in right upper limb suggestive of anterior horn cell disease. Audiometry, abdominal ultrasonography, echocardiography does not revealed other abnormalities. We examined his father and only daughter but could not find any evidence of Klippel-Feil syndrome (KFS) or amyotrophic lateral sclerosis (ALS). Final diagnosis was made as Klippel-Feil anomaly type II with definite ALS with bulbar presentation, using revised El-Escorial world federation of neurology criteria. Other possible differentials were excluded by relevant history, radiological, electrodiagnostic (EMG), biochemical (viz. Cerebrospinal Fluid, complete analysis, thyroid profile, lipid profile, S. calcium, Fasting Blood Sugar (FBS), T. proteins) and hematological [Complete Blood Count (CBC), Erythrocyte Sedimentation Rate (ESR)] investigations.