Medstudy 2

The presence of a single central maxillary incisor should prompt additional investigation for

GH deficiency and hypopituitarism.

eruption of the teeth is often delayed in GH deficiency.

GH deficiency

• Often AGA at birth.

• Slowed lineargrowth may not present till 1-2y

• Over time, they often appear “cherubic” (Kewpie doll-like) because of an excess of body fat, especially around the trunk and extremities, and deficiency of muscle mass

• round, short, broad face; a depressed nasal bridge; small nose; well-developed nasolabial folds; and underdeveloped mandible and chin

• Low IGF-1 and IGF-BP3

Congenital GH deficiency

• May have apnea, and/or severe hypoglycemia associated with seizures

• May have microphallus.

Herpes Esophagitis

• Usually from reactivation and not primary

• Usually Imunocompetent hosts

• Often brought out by high doses of orticosteroids

• pp

  • odynophagia and/or dysphagia, fever, and retrosternal chest pain.

  • Coexistent herpes labialis or oropharyngeal ulcers may be present

  • Early on, endoscopy may demonstrate individual vesicular lesions; lesions typically quickly coalesce to form well-circumscribed “volcano-like" ulcers with normal-appearing intervening mucosa.

• Tx

  • If immunocompetent

    • short course (7–10 days) of oral acyclovir

  • If immunocomp

    • 14–21 days of oral acyclovir

Barrett esophagus EGD findings

typically demonstrates long segments of columnar epithelium that extend above the esophagogastric junction. Columnar epithelium has a reddish color and velvet-like texture, whereas squamous epithelium has a more pale, glossy appearance. The squamocolumnar junction forms a visible line (the Z-line).

Candida EGD findings

white mucosal plaque-like lesions.

Caudal regression syndrome

• 200x more freq in diabetic mom

• pp

  • incomplete to absent development of the sacrum and, to a lesser extent, the lumbar vertebrae.

  • spinal cord dysfunction → varying degrees of neurologic impairment of bowel and lower extremity function

  • Growth impairment of the lower extremities

  • developmental deformities

Perinaud occuloglandular syndrome

• most common of the atypical presentations of catscratch disease caused by Bartonella henselae

• occurs after direct inoculation of the eye with the hands after contact with a cat

• pp

  • u/l conjunctival erythema w/o assoc discharge or significant pain +

  • prominent preauricular lymphadenpathy

  • Conjunctival granulomas are often identified at the site of inoculation.

• Tx

  • symptomatic care and observation

At what age is it mandated by law for kids to wear a life jacket?

13y

describe traumatic myositis ossificans

Mature peripheral ossification with a distinct margin surrounding a radiolucent center of immature osteoid and primitive mesenchymal tissue

typically occurs in active adolescents after trauma

Hyperimmunoglobulin D syndrome

• autorecess

• presents by 1y of age

• pp

  • fevers that generally last 3–7 days every 1–2 months.

  • abd pain

  • nondestructive large-joint arthritis

  • a diffuse nonmigratory erythematous macular rash, lymphadenopathy, headaches, oral/vaginal ulcers, and splenomegaly during febrile episodes.

  • IgD is often elevated (> 100 IU/mL) but not always, and IgA is also elevated in most cases

Cryopyrin=associated periodic fever syndromes CAPS

a group of autoinflammatory diseases with autosomal dominant inheritance. There are 3 periodic fever syndromes caused by mutations in the NLRP3 gene: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). These disorders have overlapping clinical presentations that include fever, acute-phase inflammation, a neutrophilic urticarial skin rash, and joint involvement. There are distinguishing features as well, including sensorineural hearing loss in MWS and CNS involvement in NOMID.

For the QRS complex to be considered normal:

• duration of QRS should not exceed more than 10ms longer than normal for that age group.

• The R wave in V1 should also not exceed 15mm in infants less than 1 year or 10 mm if greater than 1 year.

Roseola pp

• pp

  • Palpebral/periorbital edema (Berliner sign)

  • rash following defervescence

    • rash first appears on the trunk and quickly spreads to involve the extremities, face, and neck

    • nonpruritic. discrete, pinkish-red blanching macules and papules, sometimes associated with a peripheral halo of vasoconstriction.

  • enanthem consisting of erythematous papules involving the soft palate and uvula (Nagayama spots)

  • irritability, anorexia, diarrhea, upper respiratory symptoms, and suboccipital, postauricular and cervical lymphadenopathy.

• Human herpesviruses 6 and 7 (especially human herpesvirus 6) are the major causes of roseola, which peaks at 6–15 months of age and is rare after 36 months of age

Gaucher disease

• autorecess

• lipid storage disease

• pp

  • splenomegaly, hepatomegaly, skeletal abnormalities, and blood manifestations

  • Types 2 and 3 also demonstrate neurological symptoms

  • Type 2 is typically fatal by 2 years of age;

  • Erlenmeyer flask–like appearance of the femur on x-ray (don’t know why)

• Dx

  • confirmed by measurement of glucocerebrosidase activity in peripheral leukocytes.

LEOPARD syndrome

(lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis (a.k.a. pulmonary stenosis), abnormalities of the genitalia, restricted growth, and deafness). This is caused by mutations in the PTPN11 gene.

positive pathergy test

The phenomenon of developing a small, red papule, pustule, or ulceration at the site of needle insertion 1–2 days after the procedure

helpful in diagnosing Behçet disease

negative pathergy test does not rule out Behçet disease.

Pathergy is also associated with pyoderma gangrenosum

Familial mediterranean fever

• usually < 10y

• pp

  • fever from several hours to 5 days. predictable cycles that are patient specific. can be 3-5d q month, or just several times per year.

  • abd pain with the fever

  • Pleuritis, pericarditis, and scrotal swelling

  • An erysipelas-like rash can appear around the ankles

  • Arthritis, arthralgia, and myalgia are common.

Auspitz sign refers to

the appearance of small bleeding points after removal of a psoriatic scale in a patient with psoriasis

Bucket-handle deformity

describes a ridge of tissue, sometimes described as a bridge of skin, due to a fistulous tract extending to the perineal region in infants with a low imperforate anus.

hereditary hemorrhagic telangiectasia (HHT; a.k.a. Osler-Weber-Rendu syndrome)

• autodom

• pp

  • recurrent epistaxis and other bleeding diathesis

  • vascular malformations in the lungs, CNS, liver, and GI tract.

  • Nighttime epistaxis is typical and should raise the index of suspicion for this disorder.

  • Telangiectasias

    • most often found on the lips and oral cavity, palms, fingers, under the nails, soles, and ears (may not become apparent until adolescence or even later, making dx difficult).

  • Arteriovenous malformations may lead to pulmonary hemorrhage or intracranial bleeds; gastrointestinal bleeding can lead to significant anemia.

Eccentric lytic destruction and expansion of the metaphysis surrounded by a thin rim of sclerotic bone describes the radiographic findings of what?

aneurysmal bone cyst

Kobner

Darier

Auspitz

Kobner - defined as cutaneous hypersensitivity following superficial trauma (sJIA)

Darier - swelling, erythema, and pruritis of the skin in patients with mastocytosis or urticaria pigmentosa

Auspitz - Punctate bleeding when scales are scraped off in psoriasis

Water heater should be set to what?

120F or less

Branchial cleft cyst

• congenital epithelial cyst

• May form anywhere along 1st thru 4th branchial clefts (2nd most common)

• These cysts are most often located along the lower half of the anterior margin of the sternocleidomastoid muscle, although they may also be preauricular or located at the mandibular angle.

• Oftentimes, they go unnoticed until secondarily infected when they enlarge, become painful, and drain purulent material through a pore or fistula onto the cutaneous surface.

• Recurrent infection is common without surgical removal or marsupialization.

dermatofibroma

a benign, well-defined, nodular connective tissue growth firmly fixed to the skin but easily movable over the subcutaneous fat.

dermoid cyst

a painless, firm lesion containing a greasy keratinous material, which may be attached to underlying structures. Dermoid cysts in the skin and subcutis occur mostly on the face, neck, and scalp.

Epidermal cyst

firm, slightly compressible, nontender nodules most common on the face, scalp, nape of the neck, and back.

Noonan syndrome

• triangular shaped face

• downslanting palpebral fissures

• hypertelorism

• short, webbed neck

• joit laxity

• pectus deformity

• PS

• bleeding diatheses

  • most frequent abnormality is Factor 11 deficiency.

  • Combined coagulation disorders and thrombocytopenia may also be identified

  • Excessive bruising; recurrent epistaxis; prolonged bleeding following injury, childbirth, or surgery; and menorrhagia are common complaints

• short stature

• congenital heart defects, most commonly pulmonary valve stenosis

• pectus excavatum

• webbed neck

• low-set ears

• hypertelorism

• lymphedema

Nevus of ota

• aka oculodermal melanocytosis

• bluish-gray, irregular, patchy pigmentation on the face in an ophthalmic and/or maxillary distribution along the trigeminal nerve

• In addition to pigmentation of the sclera, cornea, retina, and/or optic disc, ocular abnormalities that can be associated with nevus of Ota include hemangiomas of the optic disc and glaucoma, which have been reported in up to 10% of all affected individuals.

• does not resolve with time

• more common among females of Asian (particularly Japanese) descent and in Black individuals

• Malignant transformation is very rare, although it may occur

  

nevus of Ito

similar to ota, but of the shoulders, sides of neck, upper arms, and/or scapular region.

Kasabach-Merritt phenomenon

• aka hemangioma thrombocytopenia syndrome

• When a large hemangioma is complicated by localized intravascular coagulation and hypofibrinogenemia

• Risk of DIC

• Miroangiopathic hemolytic anemia an elevated fibringen/fibrin degradatin products.

• Tx Propranolol for large ones. Maybe corticosteroids

  • Nonresponders may benefit from interferon-α, irradiation, embolization, sclerotherapy, laser therapy, and/or surgery.

Bronchogenic cysts

Bronchogenic cysts are caused by abnormal budding of the tracheal diverticulum of the foregut before 16 weeks gestation. They can cause recurrent infections, pneumothorax (from cyst rupture), and can undergo malignant transformation. Diagnosis is by CT or MRI and treatment involves excision.

Chilblains

Chilblains are symmetrically distributed dark pinkish or violaceous nodules, plaques, or blisters located on exposed extremities (fingers, toes, nose, or ears) following exposure to cold, damp weather. They can be idiopathic or secondary to an underlying connective tissue disease.

Charcot-Marie-Tooth disease

• inherited nuropathy

• progressive distal ascending weakness manifesting as foot drop and pes cavus (high-arched feet).

• The classic “stork leg” deformity results from distal calf muscle atrophy.

• Deep tendon reflexes are lost.

• Upper extremities are eventually involved in later stages of the disease process.

• DOES NOT not involve cardiomyopathy, eye issues, or upgoing toes/Babinski sign.

Juvenile spinal muscular atrophy

presents between 2 and 17 years of age with proximal muscle weakness. Pyramidal signs are absent and there is no involvement of the visual or cardiac systems.

Rash from neonatal lupus

discoid lesions, periorbital erythema, annular lesions, scaly atrophic patches, and/or telangiectasia.

Lemierre disease

• Suppurative thrombophlebitis of the jugular vein

• Due to extension of a recent preceding oropharyngeal or dental infection to the lateral pharyngeal space.

• Septic pulmonary emboli commonly occur in conjunction with the localized head and neck manifestations.

• Fever, rigors, and respiratory symptoms are typically associated with dysphagia, trismus, pain, decreased range of motion of the neck, and tonsillar/peritonsillar swelling, as well as tenderness, swelling, and/or induration overlying the jugular vein, angle of the jaw, or sternocleidomastoid muscle.

• lung abscesses and/or empyema may further complicate the disorder.

• Although less common, septic arthritis and/or osteomyelitis may also occur

• Normal oropharyngeal flora cause suppurative thrombophlebitis of the jugular vein, the most common pathogen being the anaerobe Fusobacterium necrophorum.

• Bcxs often positive

• Lemierre syndrome may also complicate infectious mononucleosis

• Tx

  • surgical drainage and β-lactamase stable antimicrobials for 3–6 weeks.

Diffuse intrinsic pontine glioma (DIPG)

• Are enmeshed with the pons (portion of the brainstem) and are unresectable.

• Radiation and chemotherapy have little or no effect.

• The survival rate is < 5% and is measured in months from the time of diagnosis.

Langerhans cell biopsy, dx confirmed with:

stains for CD1a, CD207, and S100

Electron microscopy is no longer used in common clinical practice

Howell-Jolly bodies

nuclear remnants seen as red blood cell inclusions after splenectomy

Atlantoaxial instability ss

• neck pain

• radicular pain

• torticollis

• gait abnormalities

• loss of bowel or bladder control

• weakness

• numbness

• pasticity (unusual ‘tightness’ of certain muscles)

• change in muscle tone

• gait difficulties

• hyperreflexia

• change in bowel or bladder function

Ramsay Hunt syndrome

• Caused by herpes zoster involving the geniculate ganglion.

• pp

  • Ear pain with tinnitus and vertigo

  • Vesicles and crusted vesicles with erythema can be seen on the tongue, in the ear canal, on the pinna, soft palate ← these are if the genniculate ganglion is involved which it usually is i think.

  • TM normal

  • unilateral ear pain (which often radiates outward into the pinna), vertigo, ataxia, tinnitus, and ipsilateral hearing loss

  • Facial nerve palsy

    • usually reaches maximal severity within a week of onset of symptoms.

  • Tx

    • Systemic corticosteroids and oral acyclovir

  • Prog

    • 50% do not recover facial nerve function