So You Think You Can Diagnose?

By: Molly Kelly, OMS-IV

Case 1:

An 8 year old second-grader is brought to the pediatrician by her parents who state that their normally quiet and polite daughter has gradually started behaving boisterous and rude. She has been repeating the word “cabbage head” while stumbling around the house running into doorways and tripping over steps. Her parents also report that there has been a gradual decrease in her grades and states that she no longer can correctly answer homework questions but rather draws pictures on her homework papers. Her parents have also noticed that she has oddly had spells of hyperventilation or spells of breath-holding in addition to loud teeth grinding.

Case 2

A 78 year old elderly woman presents to her physician with the complaint of her lower dentures falling out of her mouth for the past 2 days as she has pain and difficulty closing her mouth because her “tongue has gotten too big to fit inside.” Upon exam she is noted to have a fever of 100.4, stiff neck, and to be drooling. She also has a woody induration in her sub-mandibular area but no lymphadenopathy is appreciated. The patient is immediately sent to the Emergency Department where a CT is ordered.

What is wrong with this patient, and what is the ideal treatment?

Case 3

A 16 year old teenage male presents to his family physician appearing apprehensive. Upon questioning, he admits he has recently started wetting the bed at night. He also complains of involuntary muscle contraction in his hands as well as generalized weakness and fatigue. Upon exam, he demonstrates a positive Chvostek sign and is noted to have dry skin. What electrolyte abnormalities are characterized by this patient’s disorder?

Case 4

A 25 year old man returns from a two month backpacking trip along the Ogooue River in Western Africa where he was exploring the native population’s healthcare remedies. His notices something in his eye that looks like a squiggly line under the cornea after bouts of red itchy swellings under his skin on his face. What is wrong with this guy’s eye?

 

 

Answers:

Case 1- This girl has Spielmeyer-VogtSjogren-Batten Disease aka Batten’s Disease. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs) where an autosomal recessive mutation causes the buildup of lipofuscins in the body’s tissues. Symptoms of this rare, fatal autosomal recessive neurodegenerative disorder are of gradual onset where affected children sufer mental impairment, onset of seizures, progressive loss of sight to eventually becoming blind, bedridden, and demented. As there is no cure, children afflicted with this disease die at age 13-18 years depending on the type of mutation.

Case 2- This woman has Ludwig’s Angina which is a bilateral polymicrobial infection of the submandibular space that consists of the sublingual space and the submylohyoid space in the floor of the mouth. This diagnosis has the classical description of an aggressive, rapidly spreading “woody” or brawny cellulitis involving the submandibular space without lymphatic involvement and typically without abscess formation bilaterally. Computed tomography is the imaging modality of choice as treatment consists of assessment and management of the airway in addition to empiric broad-spectrum IV antibiotics for 2-3 weeks.

Case 3- This guy has Gitelman’s Syndrome characterized by hypokalemia, hypocalcemia, and hypomagnesemia. This is an autosomal recessive disorder with a mutation in the gene coding for the thiazide-sensitive Na-Cl cotransporter in the distal tubule manifesting in late childhood and adolescence.

Case 4- This man has an infection with the filarial nematode, Loa Loa. This parasitic worm is spread via the bite of the female Chrysops fly in Western and Central African countries. The worm is often directly visible as it crosses the conjunctiva, which usually takes approximately 10 to 20 minutes. It is more common in individuals who are not native but have had extended exposure to demonstrate Calabar swellings or red itchy swellings below the skin. Treatment of loiasis involves chemotherapy with diethylcarbamazine (DEC) although in some cases, surgical removal of adult worms followed by systemic treatment is appropriate.