Cases

Question 1

17 yr old boy presents for annual checkup. Mother tells you child has been mentally retarded since birth and was diagnosed with type 2 diabetes more than 3 years ago. Mother also notes that she does not think patient has gone through puberty yet. Physical examination reveals obese young man of short stature with hypotonia win all extremities,, absence of facial, axillary or pubic hair, and child like external genitalia. Y

Answer 1

Mental retardation, diabetes, hypogonadism.

Prader-willi

Question 2

A 4 month old boy is brought to your office by his parents who report the child has been inconsolable for the past 2 weeks. Upon extensive workup, you note that the child has neurodegeneration, hepatosplenomegaly, and a cherry red spot on funduscopic exam. What substrate is accumulating in the cells of this patient

Answer 2

Niemann Pick disease: accumulation of Sphingomyelin

Question 3

2. A 35-year old man comes to the office due to a painful tongue sore. For the past 2 weeks he has had a fever and has experienced myalgias and arthralgias. He has no known medical problems. The patient works as a driver for a local delivery service. He had unprotected sex with a stranger approximately 1 year ago. Physical examination shows a rash over his trunk and cervical lymphadenopathy. An ulcer is located on the median sulcus of the tongue and is 2 cm anterior to the foramen cecum. Blood is drawn for an HIV test. The pain sensation from his ulcer is most likely carried by which of the following nerves?

A. Chorda tympani
B. Glossopharyngeal nerve
C. Mandibular division of the trigeminal nerve
D. Maxillary division of the trigeminal nerve
E. Vagus nerve

Answer 3

Innervation of the tongue is complex, as there are motro, general sensory, and gustatory (taste components. Motor innervation of the tongue is provided by CN XII with the exception of the palatoglossus muscle, which is innervated by the CN X. General sensory innervation of the tongue (including touch pain pressure, and temperature sensation) is provided by CN V (V3, mandibular branch) for anterior 2/3 of the tongue, CN IX for the posterior 1/3 of the tongue, and CN X for the posterior area of the tongue root. Gustatory (special) innervation (taste buds) gets covered as follows: anterior 2/3 of the tongue by chorda tympani branch of CN VII, posterior 1/3 of the tongue by CN IX, posterior area of the tongue, epiglottis, taste buds of the larynx and upper esophagus by CN X. So, any lesion anterior to the terminal sulcus and foramen cecum, including patients oral ulcer

Question 4

3. A 66-year-old man develops transient, painless vision loss in the left eye. He has history of hypertension, hyperlipidemia, and type 3 diabetes mellitus. Evaluation reveals significant stenosis of the left internal carotid artery due to atherosclerotic plaque. Carotid endarterectomy is performed. During the surgery, the left glosspharyngeal nerve is accidentally transected. Which of the following is most likely to be seen due to the nerve injury?

A. Deviation of the protruded tongue toward the left
B. Hoarseness due to to left vocal cord dysfunction
C. Impaired taste sensation from the anterior two-thirds of the tongue
D. Loss of general sensation at the tonsillar lining
E. Reduced salivary secretion from the submandibular gland

Answer 4

Correct answer: Loss of general sensation at the tonsillar lining
The glosspharyngeal nerve, or cranial nerve *CN IX), originates in the medulla and exits the cranial cavity via the jugular foramen. This nerve has numerous functions, including: somatic motor (elevates larynx during swallowing), parasympathetic (inferior salivatory nucleus –> CN IX -> otic ganglion -> parotid gland secretion), general sensory (tympanic membrane (inner surface), eustachian tube, posterior third of the tongue, tonsillar region, upper pharynx (afferent portion of the gag reflex)), general sensory (taste: posterior one third of tongue). Glossopharyngeal nerve lesions therefore result in loss of the gag reflex (afferent limb); loss of general sensation in the upper pharynx, posterior tongue, tonsils, and middle ear cavity, and loss of taste sensation on the posterior third of the tongue. A: CN XII; B: CN X (particularly the recurrent laryngeal nerve); C: CN VII; E: CN VII (from superior salivatory nucleus).

Question 5

A 43-year-old woman presents with a chief
complaint of a numbness and weakness below her chest level.
 Her neurological symptoms started 4 years ago.
Since that time, she has experienced at least 5 neurological episodes (e.g., left facial numbness, left hand numbness, blurriness of vision on the left or the right sides).
 Each episode has lasted for several weeks and
was not associated with symptomatic infection.
-transverse myelitis
-black holes on MRI

Answer 5

MS

Immune-mediated disease of the central nervous
system that is associated with inflammation, demyelination, axonal loss/neurodegeneration
 MS etiology is not known. “Autoimmune” and “Viral”
hypotheses have been suggested but have not been proven yet.
 MS is a clinical diagnosis. There is no “MS-specific”
MRI, blood/CSF test, gene, or biopsy finding.

Question 6

28 Y/O W F presents with progressive visual loss in her right eye x 3 days.
VA 20/200 (R), 20/20 (L). Neurologic exam otherwise normal
MRI with Gadolinium shows Several white
matter T2 lesions (periventricular and infratentorial), 2 T1 lesions and one Gd- enhancing lesion.

Answer 6

Multiple sclerosis

Question 7

55 Y/O W M presents with progressive difficulty
walking of 1 year duration.  Exam shows spastic paraparesis.  Family history negative for similar disorders
MRI showed 2 T2 lesions in the spinal cord and
2 T2 lesions in the brain but no enhancing lesions.
 Spinal Fluid analysis: Increased IgG index and 3
oligoclonal bands. HTLV-1, Lyme and HIV serology were negative. ACE level was normal
 What is your diagnosis?

Answer 7

MS