A 2-year-old white male is seen for a well care visit. His mother is concerned because he is not yet able to walk. The routine physical examination, including an orthopedic evaluation, is unremarkable. Speech and other developmental landmarks seem normal for his age.
Which one of the following would be most appropriate?
Correct Answer D:
The diagnosis of Duchenne’s muscular dystrophy, the most common neuromuscular disorder of childhood, is usually not made until the affected individual presents with an established gait abnormally at age 4-5. By then, the parents unaware of the X-linked inheritance may have had additional children who would also be at risk.
The disease can be diagnosed earlier by testing for elevated creatine kinase (CK) in boys who are slow to walk. The mean age for walking in affected boys is 17.2 months, whereas over 75% of normal children walk by 13.5 months. Massive elevation of CK from 20 to 100 times normal occurs in every young infant with the disease. Early detection allows appropriate genetic counseling regarding future pregnancies.
→ Hypothyroidism (choice A) and phenylketonuria (choice C) could present as delayed walking. However, these diseases cause significant mental retardation and would be associated with global developmental delay. Furthermore, these disorders are now diagnosed in the neonatal period by routine screening.
→ Disorders of amino acid metabolism (choice B) present in the newborn period with failure to thrive, poor feeding, and lethargy.
→ Gross chromosomal abnormalities (choice E) would usually be incompatible with a normal physical examination at 18 months.
A 13-year-old male is found to have asymptomatic hypertrophic cardiomyopathy. His father also had hypertrophic cardiomyopathy, and died suddenly at age 38 following a game of tennis. The boy’s mother asks you for advice regarding his condition.
What advice should you give her?
Correct Answer E:
Hypertrophic cardiomyopathy is an autosomal dominant condition and close relatives of affected individuals should be screened (with echocardiography). The hypertrophy usually stays the same or worsens with age. This patient should not participate in strenuous sports, even those considered non-contact. The mortality rate is believed to be about 1%, with some series estimating 5%. Thus, in most cases, lifespan is normal. Cardiac catheterization should be performed in patients with HCM who have angina, syncope, resuscitated sudden death, or a worrisome stress test.
A 17-year-old white female is brought in by her parents because of concern about her recent behaviour and weight loss obsession discussions. Her past medical history is unremarkable. Physical examination is notable for a body mass index of 25 m/kg², bilateral parotid glad enlargement, dental erosions on the lingual surfaces of her teeth, submandibular lymphadenopathy, and elongated abrasions on the dorsal surface of her right hand.
The most likely diagnosis:
Findings associated with self-induced vomiting include swelling of the parotid gland and submandibular glands, abnormal dentition, perimolysis (loss of dentin on the lingual and occlusal surfaces of the teeth), and abrasions on the dorsum of the hand (caused by scraping against the incisors during attempts to induce vomiting). These signs would most strongly support the diagnosis of bulimia nervosa.
The hospital nursery reports that a 24-hour-old male has developed “acne” confined to his nose and cheeks. Your examination confirms the presence of acneiform lesions, including papules.
Acneiform lesions confined to the nose and cheeks may be present at birth or may develop in early infancy. The lesions clear without treatment, as large sebaceous glands stimulated by maternal androgens become smaller and less active.
You see a 16-year-old white female for a pre-participation evaluation for sports and she asks for advice about the treatment of acne. She has a few inflammatory papules on her face. No nodules are noted. She says she has not tried any over-the-counter acne treatments.
Which one of the following would be considered first-line therapy for this condition?
Correct Answer D: The Academy of Dermatology grades acne as mild, moderate, and severe. Mild acne is limited to a few to several papules and pustules without any nodules. Patients with moderate acne have several to many papules and pustules with a few to several nodules. Patients with severe acne have many or extensive papules, pustules, and nodules.
The patient has mild acne according to the Academy of Dermatology classification scheme. Topical treatments including benzoyl peroxide, retinoids, and topical antibiotics are useful first-line agents in mild acne. Topical sulfacetamide is not considered first-line therapy for mild acne. Oral antibiotics are used in mild acne where there is inadequate response to topical agents and as first-line therapy in more severe acne. Caution must be used to avoid tetracycline in pregnant females. Oral isotretinoin is used in severe nodular acne, but also must be used with extreme caution in females who may become pregnant. Oral hormonal therapy is an alternative to oral antibiotic therapy in postmenarchal females with moderate to severe acne.
Click to expand