This patient presented with a few week history of progressive weakness affecting the four limbs associated with muscle pain. He found it increasingly difficult to lift up his arms to above his shoulder level and also to climb stairs. There was in addition unintentional weight loss of 20 pounds (baseline of 180 pounds) during the past 2 months. Physical examination revealed the presence of a heliotropic skin rash with mild oedema especially prominent over the right eyelids and perioribital tissue. There was in addition presence of Gottron’s papules noted over the knuckles of the hands. Neurological examination revealed prominent bilateral, symmetrical, proximal muscle weakness over all four limbs with preserved distal limb power, normal reflexes and downgoing plantar responses. The patient had significant difficultly standing up from a sitting position and was only able to stand up with assistance by pressing against the handles of the chair. Muscle tenderness was also present. Sensory examination and cranial nerve examination was unremarkable. Subsequent investigations including blood tests for muscle enzymes and electromyography confirmed the presence of an active inflammatory myositis. Together with the skin changes, a diagnosis of dermatomyositis was made. A search for an underlying malignancy was made including blood tests for tumour markers as well as a whole body positron-emission tomography and computed tomography scan. The patient was subsequently diagnosed to have an underlying nasopharyngeal carcinoma resulting in dermatomyositis.
Archive for the ‘Neurological Signs’ Category
Dermatomyositis
Tuesday, August 19th, 2014
Neuro-fibromatosis
Tuesday, August 19th, 2014This is a patient with neurofibromatosis type 1, an autosomal dominant neuro-cutaneous disorder. In the first two photos (Figures 1 and 2), multiple neurofibromasas well as café-au-lait spots are present on the trunk and upper limbs. In the third and forth photo (Figures 3 and 4), freckling can be seen at the axillary and inguinal region.
Other features of neurofibromatosis type 1 include optic glioma, Lisch nodules (iris harmatomas), osseous lesions (e.g. sphenoid dysphasia or thinning of long bones), whilst features of neurofibromatosis type 2 include bilateral eighth nerve palsy.
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Myotonia
Tuesday, August 19th, 2014This is a video from a middle-aged man with myotonic dystrophy type 1, an autosomal dominant multi-systemic disorder that not only affects the muscles, but also causes other problems such as cataracts, arrhythmias and diabetes mellitus. The video shown here is typical of myotonia which can be seen in these patients. The tone is usually normal when muscles are relaxed. However, with muscle contraction, and in this case tested by asking the patient to form a tight fist, there is a delayed and slow relaxation of the hand muscles. This phenomenon is therefore termed grip myotonia. Patients may also have percussion myotonia. This can be elicited by tapping over a muscle bulk (most commonly tested by tapping the thenar eminence), which would result in a prolonged tonic abduction and opposition movement of the thumb lasting for several seconds.
Tongue Haematoma after Seizure
Tuesday, August 19th, 2014This middle-aged man was admitted after a generalized tonic-clonic seizure that occurred at home. Physical examination did not reveal any significant external wounds as a result of the seizure and there were no focal neurological signs. However, examination of the oral cavity showed presence of a haematoma at the side of the tongue. This occasionally occurs in patients with generalized tonic-clonic seizures as a result of clenching of the teeth that may result in biting of the cheek or tongue.
Facial Nerve Palsy
Sunday, August 10th, 2014In this video, one can appreciate that the patient has a lower motor neuron type of weakness affecting the right facial nerve. On asking the patient to look upwards (stimulation of the frontalis muscles), one can appreciate the lack of wrinkles over the forehead on the right side compared with the left. On asking the subject to close his eyes tight (function of the orbicularis oculi), one can see that the right eyelid closure is significantly impaired with a positive Bell’s phenomenon, where one can see the upward movement of the eyeball.
In the second video, one can see that the right nasolabial folds are attenuated and on asking the patient to show his teeth, the patient is unable to elevate the angle of the mouth (function of the levator anguli oris). When asked the patient to ‘blow out his cheeks’, one can also see that the right side is significantly weaker and air can be forced out due to the weakened orbicularis oris sphincter. This patient had a facial nerve palsy secondary to varicella-zoster virus infection (Ramsay Hunt syndrome).