Turner's Syndrome

Turner's Syndrome

• General considerations

• 1 out of every 2,000-2,500 female live births
• Almost all (95%) have
• Short stature
• Loss of ovarian function
• Caused by the absence of a set of genes from the short arm of one X chromosome
• Single X chromosome
• 75-80% single X is contributed by mother
• X-O = Female (Turner Syndrome)
• X-X-Y=Male (Klinefelter Syndrome)
• Hearing loss due to otosclerosis is common in adults

• Appearance

• Short stature
• Absent adolescent growth spurt
• Average adult height is 4 feet 8 inches
• Loss of SHOX gene necessary for growth of long bones
• Short fingers (4^th metacarpal)

• Short toes
• Cubitus valgus – increased carrying angle (arms turn outward at elbow) the elbow
• Webbed neck
• Widely spaced nipples (shield crest)
• Excessive number of nevi
• Higher incidence of hip dislocation in infants
• Scoliosis in up to 10%
• Cutis laxa – loose folds of skin especially around neck

• Puberty and reproduction

• Loss of ovarian function usually in early childhood
• Delayed puberty
• Estrogen therapy is frequently used to induce changes of puberty

• Cardiovascular

• Coarctation of the aorta in 5-10%
• Bicuspid aortic valves in 15%
• Increased risk of aortic dissection
• Hypertension
• May be due to coarct or renal abnormalities or occur in absence of both

• Renal

• Horseshoe kidney

• Osteoporosis

• High incidence due to inadequate circulating estrogen

• Diabetes

• Type II (Insulin-resistant) diabetes
• Thyroid
• About 1/3 are hypothyroid, often with an enlarged thyroid

• Intelligence

• Normal intelligence

Short 4th metacarpal in Turner Syndrome. A line (white line) drawn across the

heads of the 4th and 5th metacarpals will normally not transect a portion of the head of the 3rd metacarpal unless the 4th metacarpal is short (see list above).

Lymphedema

Lymphedema

General Considerations

• Abnormal collection of protein-laden fluid in the soft tissues from lymphatic obstruction
• This, in turn, leads to extravascular accumulation of water and soft tissue swelling
• Affects primarily lower extremities (80%)
• Primary form involves a congenital defect in lymphatic system and may be associated with Turner, Klinefelter, and Noonan Syndromes, trisomy 21, 13 or 18
• Secondary form may be due to neoplasm, filariasis, obesity, trauma or surgery/radiation therapy

Clinical Findings

• Chronic swelling of an extremity  (not the same patient as radiograph)
• Fever, chills, weakness
• Redness and thickening of skin
• Impairment of activities due to size and weight of extremity
• Non-tender pitting edema progressing to non-pitting edema
• Elephantiasis nostra verrucosa primarily on the shins

Imaging Findings

• Diagnosis is made clinically
• Imaging is generally not needed
• MRI may show causes of obstruction

Differential Diagnosis

• Congestive heart failure
• Chronic venous stasis
• Deep vein thrombosis
• Filariasis

Complications

• Cellulitis
• Lymphangitis

Treatment

• Pharmacotherapy includes benzopyrones, retinoid-like agents, topical skin products and anthelminthic agents
• Compression stockings and physical therapy
• Elevation of limb

 Lymphedema. There is marked soft tissue swelling of the left lower extremity. The patient had a negative workup for filarial disease and the leg was normal.

Epiglottitis

Epiglottitis

General Considerations

• Acute bacterial epiglottitis
• Life-threatening, medical emergency due to infection with edema of epiglottis and aryepiglottic folds
• Organism
• Introduction of Haemophilus influenzae type B vaccine in 1985 has led to marked decrease in number of cases of epiglottitis
• Still remains the most common cause
• Also caused by
• Pneumococcus
• Streptococcus group A
• Viral infection – herpes simplex 1 and parainfluenza
• May also be caused by thermal injury and angioneurotic edema
• Age
• Typically between 3-7 years
• Peak incidence has become older over last decade and is now closer to 6-7 years
• Location
• Purely supraglottic lesion
• Associated subglottic edema in 25%
• Associated swelling of aryepiglottic folds causes stridor

Clinical Findings

• Classical triad is: drooling, dysphagia and distress (respiratory)
• Abrupt onset of respiratory distress with inspiratory stridor
• Sore throat
• Severe dysphagia
• Older child may have neck extended and appear to be sniffing due to air hunger
• Resembles croup clinically, but think of epiglottitis if:
• Child can not breathe unless sitting up
• “Croup” appears to be worsening
• Child can not swallow saliva and drools (80%)
• Cough is unusual

Imaging Findings 

• Patient needs to be accompanied everywhere by a physician experienced in endotracheal intubation
• Imaging studies are not always necessary for the diagnosis and may be falsely negative in early stages
• Lateral radiograph should be taken in the erect position only, as
• Supine position may close off airway
• Enlargement of epiglottis
• “Larger than your thumb”
• Thickening of aryepiglottic folds
• True cause of stridor
• Circumferential narrowing of subglottic portion of trachea during inspiration
• Ballooning of hypopharynx and pyriform sinuses
• Reversal of the normal lordotic curve of the cervical spine
• Fiberoptic-assisted, nasotracheal intubation is procedure of choice, so long as airway is secured

Differential Diagnosis

• Croup 
• Dilatation of the hypopharynx
• Dilation of the laryngeal ventricle
• Narrowing of the subglottic trachea
• Epiglottis is normal
• Enlarged adenoids  
• Compression of nasopharyngeal airway
• Frequently associate with enlargement of the lingual tonsils
• Epiglottis is normal

Treatment

• Secure airway
• May require intubation or emergency tracheostomy
• Some use IV steroids
• Empiric antibiotic therapy

Complications

• Danger of suffocation secondary to complete airway closure
• Pneumonia

Epiglottitis. A lateral radiograph of the neck using soft tissue technique demonstrates an enlarged epiglottis (red arrow) with markedly thickened aryepiglottic fold (white arrow) diagnostic of acute epiglottitis.

Acupuncture Needles

Acupuncture Needles

General Considerations

• Performed widely in US, especially amongst Chinese, Korean and Japanese Clinical Findings
• Needles that are about 1 mm in diameter and 1-1.5 cm long
• They are inserted for 15 minutes or so and usually removed
• May be inserted with a spring-loaded syringe
• Japanese form is called Hari and involves permanent placement of needles about 3 cm deep into subcutaneous tissues and of breaking needle off at skin
• Belief is the retained needles continue to provide their stimuli
• Frequently inserted along vertically oriented “meridians” (parallel lines)

Imaging Findings

• Needles are metallic, made out of stainless steel, silver or gold
• The needle tips may be straight, curvilinear or semicircular
• Uniform in size and linear in arrangement

Differential Diagnosis

• Metallic sutures

Treatment

• They stay in the body forever, rarely causing complications

Complications

• They may migrate
• They may be the cause of foreign body granulomas or cause dermatitis
• Migration may be to solid organs or hollow visci 

Acupuncture Needle Fragments. There are innumerable small metallic fragments of acupuncture needles that have been permanently retained in the subcutaneous tissue of this patient's back (white oval).

Free Silicone Injections

Free Silicone Injections

General Considerations

• Commonly used for breast augmentation in the ‘50s and ‘60s
• It was stopped because of safety concerns and it was ineffective
• Eventually, banned by the U.S. Food and Drug Administration in 1992
• However, it may still be found in older patients and immigrants, especially from South America and Asia
• Complications are common and include inflammation with
• Formation of silicone granulomas
• Fibrosis
• Lymphadenopathy

Clinical Findings

• Silicone granulomas are clinically palpable
• Diffuse nodularity and hard lumps, making manual breast examination difficult

Imaging Findings

• On mammography, free silicone demonstrates multiple, very dense and lobulated masses throughout the breast with or without peripheral calcifications
• The masses can cause distortion of the breast parenchyma and obscure visualization of a small breast cancer
• Extremely dense lymph nodes may also be present
• Sonographic and MRI findings are similar to those of extracapsular implant ruptures
• But, findings are scattered throughout the breasts without the presence of an envelope or fibrous capsule
• MRI, especially with fat and water suppression technique, will afford optimal visualization of free silicone and should permit differentiation of free silicone from a breast neoplasm
   

Free Silicone Injections, Breast. Craniocaudad views of both breasts show innumerable very dense and lobulated masses throughout both breasts

Enlarged Tonsils and Adenoids

Enlarged Tonsils and Adenoids

General Considerations

• Lymphoid tissue on the posterior wall of the nasopharynx  and part of Waldeyer’s ring, which consists primarily off the adenoids, palatine tonsils and lingual tonsils
• Natural history of the adenoids
• Although present at birth, they are usually invisible until 3-6 months
• Newborns do not have visible adenoids
• They can grow until about age 6
• They then involute through adulthood
• Adults do not have visible adenoids
• Enlargement is pathological when they encroach on nasopharyngeal airway
• Does not usually occur until 1-2 years of age
• Clinical findings
• Nasal congestion
• Mouth-breathing
• Chronic or recurrent otitis media due to their proximity to the Eustachian tubes
• Painful swallowing
• Sleep apnea
• Most commonly cultured bacteria
• Haemophilus influenzae
• Group A beta-hemolytic Streptococcus
• Staphylococcus aureus
• Moraxella catarrhalis
• Streptococcus pneumoniae
• Imaging findings
• Measurements are not reliable
• The lateral neck x-ray is the main imaging study
• The size of the adenoids is less of a consideration than the degree to which they do or do not impinge on the nasopharyngeal airway
• There is good correlation between direct visualization of the adenoids and the lateral neck radiograph is assessing size
• If the nasopharyngeal stripe of air is half the size of the soft palate, significant obstruction occurs.
• If no adenoidal tissue after 6 months
• Suspect immune deficiency
• If enlarged adenoids well after childhood
• Suspect lymphatic malignancy
• Lymphoma
• Leukemia
• Treatment
• Wait until they involute
• Surgically remove them
• Indications for adenoidectomy are
• Enlargement causing nasal airway obstruction
• Recurrent or persistent otitis media in children aged 3-4 years and older
• Recurrent and/or chronic sinusitis

Enlarged Adenoids and Tonsils. The adenoids (A) are enlarged and are 

narrowing the nasopharyngeal airway (black arrow), The lingual tonsils (T) are also enlarged.

Saline Breast Implant Calcification

Saline Breast Implant Calcification

General Considerations

• Calcification can occur in the fibrous capsule that develops around a breast implant
• More commonly occurs with first generation silicone implants, when the implant has been present for more than a decade, rupture of the implant
• Subglandular implants are more likely to calcify than submuscular implants

Clinical Findings

• Calcifications are considered of no clinical significance unless they mimic or obscure calcifications of malignancy on mammograms
• Implants are ovoid in shape initially but may become rounder with calcification
• May produce firmness
• May produce pain

Imaging Findings

• Calcification may be focal or diffuse
• Thin-rim of calcification that outlines implant
• Does not imply rupture
• MRI is the most accurate imaging examination for the evaluation of silicone breast implant rupture

Treatment

• None required for the calcification itself 

Calcified Breast Implant. Thin, curvilinear calcification (white arrows) surrounds the capsule of this patient's right saline breast implant done inserted 12 years earlier. The left implant is denser than normal breast tissue (yellow arrow), but its calcification is not visible on this chest radiograph.