If infection is suspected, smears and cultures of exudates should be done. X-rays of the skull, sinuses, and jaw may be helpful. A computed tomography (CT) scan will be more definitive. If neoplasm or granuloma is suspected, a biopsy or excision will be necessary. If there is still doubt about the etiology, an oral surgeon or otolaryngologist should be consulted.

The approach to the diagnosis of face pain includes a careful history and physical examination with a good neurologic examination. The sinuses are transilluminated, and x-rays may be performed. The teeth and occlusion are examined carefully and possibly x-rayed. A histamine test may be indicated to rule out histamine cephalalgia. The busy physician may want to refer the patient to a neurologist immediately, but this will obviously take away the challenge.

The clinical picture will frequently help to determine the cause of facial paralysis. Peripheral facial palsy as occurs in Bell palsy involves the forehead muscles and there is difficulty in closing the eyelid, whereas central facial palsy involves the face and lips and there is often associated hemiplegia or monoplegia. When there is exclusively a peripheral facial palsy without hearing loss or other neurologic signs, Bell palsy should be strongly suspected, although diabetes and myasthenia gravis need to be excluded. A bilateral peripheral nerve palsy should make one consider Guillain–Barré syndrome as well as Lyme disease; be on the lookout for paralysis of the extremities as well. Bilateral facial palsy is also seen in myotonic dystrophy and myasthenia gravis. A “Bell palsy” with hearing loss and an aural discharge should prompt consideration of mastoiditis and petrositis. If there is hearing loss without a discharge, the possibility of an acoustic neuroma or cholesteatoma must be entertained. The association of a central facial palsy with hemiplegia brings up a host of possibilities including subdural hematoma, brain abscess, brain tumor, and cerebrovascular accident. The workup of these conditions is considered on page 218.

If the patient has clinical Bell palsy, one could start a therapy without a workup, but it is wise to get an x-ray of the skull and mastoids to rule out mastoiditis and petrositis and a glucose tolerance test to rule out diabetes.

An acetylcholine receptor antibody titer or Tensilon test would only be ordered if the palsy were intermittent or there were other cranial nerve signs. If a middle ear infection or acoustic neuroma is suspected, the patient needs x-rays of the mastoids and petrous bones and a CT scan or MRI of the brain and auditory canal.

Obviously, the workup of abnormal facies will depend on what disease is suggested by the facial appearance combined with other abnormalities of the physical and neurologic examination. A careful history will be helpful in many cases.

Routine diagnostic workup should include a CBC, sedimentation rate, urinalysis, urine culture, chemistry panel, sweat test, stool for quantitative fat, chest x-ray, and electrocardiogram (ECG). Bone age x-rays are helpful in determining growth retardation. At this point, it is helpful to consult a pediatrician before ordering expensive diagnostic tests. When studies are negative, consider constitutional growth delay as the cause.

Deciding on the cause of fasciculations will usually be based on other neurologic symptoms and signs. Muscular atrophy without sensory changes suggests progressive muscular atrophy, whereas atrophy and fasciculations with sensory changes suggest syringomyelia, peripheral neuropathy, and root compression (e.g., a herniated disc). Treatable neurologic disorders should be considered first. Thus, x-rays of the spine, spinal fluid analysis, and MRI should be performed to rule out a space-occupying lesion. EMG is useful in detecting which level is involved and in following the progress of the disease. Serum electrolytes, calcium, phosphorus, and magnesium levels are useful in selected disorders.