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CROUZON SYNDROME

CASE REPORT


This is a case report of an unusual case of a 12 year old child who presented to our department as a diagnosed case of Crouzon Syndrome with a post operative status of VP Shunt for reduction of Hydrocephalus. Hydrocephalus is common in crouzon syndrome because of Venous congestion.

Clinical Images



X-Ray showed : 







DISCUSSION
Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome
affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the
branchial arches are important developmental features in a growing embryo, disturbances in their development
create lasting and widespread effects.
Causes
Associations with FGFR2 and FGFR3 have been identified.
Symptoms
As a very complicating result of the changes to the developing embryo, the symptoms are very pronounced features, especially in the facial areas. Low-set ears is a typical characteristic, as in all of the disorders which are called branchial arch syndromes. The reason for this abnormality is that ears on a fetus are much lower than those on an adult. During normal development, the ears "travel" upward on the head; however, in Crouzon patients, this pattern of development is disrupted. Ear canal malformations are extremely common, generally resulting in some hearing loss. In particularly severe cases, Ménière's disease may occur.
The most notable characteristic of Crouzon syndrome is cranial synostosis, but it usually presents asbrachycephaly, which results in the appearance of a short and broad head. Exophthalmos (bulging eyes due to shallow eye sockets after early fusion of surrounding bones), hypertelorism (greater than normal distance between the eyes), and psittichorhina (beak-like nose) are also symptoms. Additionally, a common occurrence is external strabismus, which can be thought of as opposite from the eye position found in Down syndrome. Lastly, hypoplastic maxilla (insufficient growth of the midface) results in relative mandibular prognathism (chin appears to protrude despite normal growth of mandible) and gives the effect of the patient having a concave face.
For reasons that are not entirely clear, most Crouzon patients also have noticeablyshorter humerus and femur bones, in proportion to the rest of their bodies, than members of the general population. A small percentage of Crouzon patients also have what is called "Type II" Crouzon syndrome, distinguished by partial syndactyly.
Diagnosis
Diagnosis of Crouzon syndrome usually can occur at birth by assessing the signs and symptoms of the baby. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing, X-rays and CT scans can be used to confirm the diagnosis of Crouzon syndrome.
Incidence
Incidence of Crouzon syndrome is currently estimated to occur in 1 out of every 25,000 people out of the general population. 

Treatment

Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of plastic surgery. To move the orbits forward, plastic surgeons work with neurosurgeons to expose the skull and orbits and reshape the bone. To treat the midface deficiency, plastic surgeons can move the lower orbit and midface bones forward (this does not need neurosurgical assistance). For jaw surgery, either plastic surgeons have experience to perform these operations. It is rare to wear a custom-fitted helmet (or cranial band) for several months after surgery as that is only for single-suture "strip craniectomy" repair. Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, therefore an open operation is used rather than the strip craniectomy with helmeting.
Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan.

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TRACHEO-ESOPHAGEAL FISTULA - A case Report

This was a case of a 65 year old female who came to our department with dysphagia for Barium Swallow.

Upon doing the investigation, a tracheoesophageal fistula was detected and the patient was rushed to the casulaty for further management.
The patient had probably developed the fistula due to pressure necrosis by a tracheostomy tube as she had given history of being applied a trachestomy tube for quite some time.


X-Ray Images





DISCUSSION


A tracheoesophageal fistula is an abnormal connection (fistula) between the esophagus and the trachea. TEF is a common congenital abnormality, but when occurring late in life is usually the sequela of surgical procedures such as alaryngectomy.



Causes

Congenital TEF can arise due to failed fusion of the tracheoesophageal ridges during the third week of embryological development.
A fistula, from the Latin meaning ‘a pipe,’ is an abnormal connection running either between two tubes or between a tube and a surface. In tracheo-esophageal fistula it runs between the trachea and the esophagus. This connection may or may not have a central cavity; if it does, then food within the esophagus may pass into the trachea (and on to the lungs) or alternatively, air in the trachea may cross into the esophagus.
TEF can also occur due to pressure necrosis by a tracheostomy tube in apposition to a nasogastric tube (NGT).

Associations

Babies with TEF or esophageal atresia are unable to feed properly. Once diagnosed, prompt surgery is required to allow the baby to take in food. Few TEF children have problems after surgery, however a number develop feeding difficulties and chest problems. Some TEF babies are also born with other abnormalities, most commonly those described in VACTERL association - a group of anomalies which often occur together, including heart, kidney and limb deformities. 6% of babies with TEF also have a laryngeal cleft

Clinical presentation

Tracheoesophageal fistula is suggested in a newborn by copious salivation associated with choking, coughing, vomiting, and cyanosis coincident with the onset of feeding. A fistula may also be a the cause of polyhydramnios while in utero.








Treatment









1

RICKETS - A Case Report

This is a case of Rickets which presented to our department with swelling of joints. The baby was 3 years old.

Clinical Images :

Hypertrophy of jointsBow legs
Harrisons Groove

Upon evaluation of the case X-Ray was done on the wrist joints which revealed Cupping and Fraying of the metaphyseal ends of radius and ulna with widening of the metaphysis.






DISCUSSION :

Rickets is a softening of bones in children potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries. The predominant cause is a vitamin D deficiency, but lack of adequate calcium in the diet may also lead to rickets (cases of severe diarrhea and vomiting may be the cause of the deficiency). Although it can occur in adults, the majority of cases occur in children suffering from severe malnutrition, usually resulting from famine or starvation during the early stages of childhood.Osteomalacia is the term used to describe a similar condition occurring in adults, generally due to a deficiency of vitamin D.[1] The origin of the word "rickets" is probably from the Old English dialect word 'wrickken', to twist. The Greek derived word "rachitis" (ραχίτις, meaning "inflammation of the spine") was later adopted as the scientific term for rickets, due chiefly to the words' similarity in sound.

Signs and symptoms

Signs and symptoms of rickets include:



IMAGING FINDINGS


Plain radiograph findings include the following:
  • Widening and cupping of the metaphyseal regions
  • Fraying of the metaphysis
  • Craniotabes
  • Bowing of long bones
  • Development of knock-knees, or genu valgum 
  • Development of scoliosis
  • Impression of the sacrum and femora into the pelvis, leading to a triradiate configuration of the pelvis
  • In healing rickets, the zones of provisional calcification become denser than the diaphysis. In addition, cupping of the metaphysis may become more apparent.
A useful mnemonic for remembering the findings of rickets is as follows:
  • Reaction of the periosteum (may occur)
  • Indistinct cortex
  • Coarse trabeculation
  • Knees, wrists, and ankles affected predominantly
  • Epiphyseal plates, widened and irregular
  • Tremendous metaphysis (cupping, fraying, splaying)
  • Spur (metaphyseal)


Treatment and prevention

The treatment and prevention of rickets is known as antirachitic.

[]


Diet and sunlight

Treatment involves increasing dietary intake of calcium, phosphates and vitamin D. Exposure to ultraviolet B light (sunshine when the sun is highest in the sky), cod liver oil, halibut live oil are all sources of vitamin D.

A sufficient amount of ultraviolet B light in sunlight each day and adequate supplies of calcium and phosphorus in the diet can prevent rickets. Darker-skinned babies need to be exposed longer to the ultraviolet rays. The replacement of vitamin D has been proven to correct rickets using these methods of ultraviolet light therapy and medicine.
Recommendations are for 400 international units (IU) of vitamin D a day for infants and children. Children who do not get adequate amounts of vitamin D are at increased risk of rickets. Vitamin D is essential for allowing the body to uptake calcium for use in proper bone calcification and maintenance.

[]Supplementation

Sufficient vitamin D levels can also be achieved through dietary supplementation and/or exposure to sunlight. Vitamin D3 (cholecalciferol) is the preferred form since it is more readily absorbed than vitamin D2. Most dermatologists recommend vitamin D supplementation as an alternative to unprotected ultraviolet exposure due to the increased risk of skin cancer associated with sun exposure. Note that in July in New York City at noon with the sun out, a white male in tee shirt and shorts will produce 20000 IU of Vitamin D from 20 minutes of non-sunscreen sun exposure.[citation needed]
According to the American Academy of Pediatrics (AAP), infants who are breast-fed may not get enough vitamin D from breast milk alone. For this reason, the AAP recommends that infants who are exclusively breast-fed receive daily supplements of vitamin D from age 2 months until they start drinking at least 17 ounces of vitamin D-fortified milk or formula a day.[2] This requirement for supplemental vitamin D is not a defect in the evolution of human breastmilk, but is instead a result of the modern-day infant's decreased exposure to sunlight (i.e. breast-fed infants who receive adequate sun exposure are less likely to develop rickets, though supplementation may still be indicated in the winter, depending on geographical latitude).










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CHILAIDITI SYNDROME

This patient was a 55 yr old female who presented to our department with acute onset of abdominal pain and shortness of breath. Upon chest X-Ray it was found out that her Transverse Colon was interposed between the Liver and the diaphragm which gives rise to a condition called Chilaiditi Syndrome.




DISCUSSION
Chilaiditi syndrome is a rare condition when pain occurs due to transposition of a loop of large intestine (usually transverse colon) in between the diaphragm and the liver, visible on plain abdominal X-ray or chest X-ray.
Normally this causes no symptoms, and this is called Chilaiditi's sign. The sign can be permanently present, or sporadically. Thisanatomical variant is sometimes mistaken for the more serious condition of having air under the diaphragm (pneumoperitoneum) which is usually an indication of bowel perforation. This may lead to unnecessary surgical interventions.
Chilaiditi syndrome refers only to complications in the presence of Chilaiditi's sign. These include abdominal pain, torsion of the bowel (volvulus) or shortness of breath.

Causes

The exact cause is not always known, but it may occur in patients with a long and mobile colon (dolichocolon), chronic lung disease such as emphysema, or liver problems such as cirrhosis and ascites. Chilaiditi's sign is generally not associated with symptoms, and is most commonly an incidental finding in normal individuals.
Absence or laxity of the ligament suspending the transverse colon or of the falciform ligament are also thought to contribute to the condition. It can also be associated with relative atrophy of the medial segment of the left lobe of the liver. In this case, the gallbladder position is often anomalous as well - it is often located anterior to the liver, rather than posterior.

Epidemiology

The occurrence (incidence) on abdominal or chest X-rays is around 0.1% but it can be up to 1% in series of older adults. It has also been reported in children.

Synonyms

Synonyms include interpositio hepatodiaphragmatica, subphrenic displacement of the colon and subphrenic interposition syndrome.

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Retropharyngeal Abscess

A CASE OF RETROPHARYNGEAL ABSCESS


INTRODUCTION
Retropharyngeal abscess (RPA) produces the symptoms of sore throat, fever, neck stiffness, and stridor. Retropharyngeal abscess occurs much less commonly today than in the past because of the widespread use of antibiotics for suppurative upper respiratory infections. Retropharyngeal abscess, once almost exclusively a disease of children, is observed with increasing frequency in adults. Retropharyngeal abscess poses a diagnostic challenge for the emergency physician because of its infrequent occurrence and variable presentation.



PATHOPHYSIOLOGY

The retropharyngeal space is posterior to the pharynx, bound by the buccopharyngeal fascia anteriorly, the prevertebral fascia posteriorly, and the carotid sheaths laterally. It extends superiorly to the base of the skull and inferiorly to the mediastinum.
Abscesses in this space can be caused by the following organisms:
  • Aerobic organisms, such as beta-hemolytic streptococci and Staphylococcus aureus
  • Anaerobic organisms, such as species of Bacteroides and Veillonella
  • Gram-negative organisms, such as Haemophilus parainfluenzae and Bartonella henselae

IMAGING STUDIES
    • Widening of the retropharyngeal soft tissues is observed in 88% of patients with retropharyngeal abscess in a series that defined soft tissue swelling as more than 7 mm at C2 and more than 14 mm at C6. Most authors define retropharyngeal soft tissue swelling as more than 7 mm at C2 and more than 22 mm at C6; thus, lateral neck radiographs may be considerably less sensitive for detecting retropharyngeal abscess than this study indicates.
    • Generally, the anteroposterior diameter of the prevertebral soft tissue space in children should not exceed that of the contiguous vertebral bodies.
    • In addition to showing widening of the prevertebral space, the lateral neck radiograph rarely may show a gas-fluid level, gas in the tissues, or a foreign body.

TREATMENT


Prehospital Care

  • Supplemental oxygen and attention to upper airway patency are the essential components of prehospital care in patients with suspected retropharyngeal abscess.
  • If a child exhibits respiratory distress, the sniffing position may be beneficial.
  • Occasionally, endotracheal intubation or cricothyrotomy may be required if the patient exhibits signs of upper airway obstruction.

Emergency Department Care

ED management of retropharyngeal abscess includes attention to the airway, fluid resuscitation if necessary, antibiotic treatment, and preparation for an emergency operation. Frequent vital sign checks and continuous oxygen saturation monitoring are essential.
  • Airway management
    • Apply supplemental oxygen. In young children, this can be completed in a nonthreatening way by letting the parent direct blow-by oxygen at the child's face.
    • Endotracheal intubation may be required if the patient has signs of upper airway obstruction. It may be difficult because of upper airway swelling.
    • Cricothyrotomy (surgical or needle) may be required in the patient with upper airway obstruction who cannot be intubated. Tracheostomy may be required for definitive airway management.
  • Intravenous fluids are required if the patient is dehydrated because of fever and difficulty swallowing.

Antibiotics

Gram-positive organisms (including beta-lactamase producing), gram-negative organisms, and anaerobes must be covered. The list of antibiotic regimens in the table below is from The Sanford Guide to Antimicrobial Therapy 2008.16
Some recommend the following regimens, which were not mentioned in The Sanford Guide to Antimicrobial Therapy: penicillin and oxacillin, second- or third-generation cephalosporin and clindamycin, penicillinase-resistant penicillin combined with either clindamycin or metronidazole, or third-generation cephalosporin in combination with clindamycin, nafcillin, or both (triple therapy).

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Tuberculous Dactylitis – Spina Ventosa


Boyer is credited with the first anatomical description of spina ventosa (spina = short bone;
ventosa = inflated with air) in the short long bones in 1803,


Case Report :
A 7 year-old male was brought with complaint of draining sinus from the dorsal aspect
of right hand. Initially he had pain in right hand five months back for which symptomatic
treatment was given, following which he developed a soft tissue swelling in the hand. After a trivial trauma pus started discharging from the involved site. Despite broad spectrum antibiotic therapy, there was no clinical improvement.



Discussion :
Skeletal tuberculosis is relatively uncommon compared to the pulmonary form of tuberculosis. Only 1/3rd of patients with bone tuberculosis are diagnosed with concomitant active pulmonary disease. In fact, bones and joints are affected in 1%–3% of all cases and the spine and the hip are most commonly involved. It occurs in 1–5% of children who have untreated initial pulmonary TB. The incidence of tubercular dactylitis among children with TB is reported to be 0.65-6.9%. The bones of the hands are more frequently affected than bones of the feet. In the feet, the calcaneus is the bone most commonly involved. In infancy and childhood before the epiphyseal centres are well established, the hematopoietic marrow in the short bones offers a fertile field for hematogenous bacterial implants. The infection rapidly involves the entire marrow space. Tuberculous granulation tissue expands the relatively soft cortex as it is resorbed or infarcted by the underlying process. The resultant fusiform expansion of the bone with thinned cortex and relatively radiolucent marrow space due to trabecular destruction resembles an inflated balloon. Typically, there is no periosteal layering or thickening, and sequestration ordinarily does not occur. Sclerosis may be seen in long standing cases. In natural course, the disease heals with shortening of the involved bone and deformity of the neighbouring joint. The condition usually presents as a painless swelling of a digit of few months’ duration. The main differential diagnoses include sickle cell dactylitis which exhibits features similar to that of tubercular dactylitis but is characteristically bilateral and dissolution of the sickle cell lesions is typically followed by irregularly sclerotic new bone formation. Other differential diagnoses are congenital syphilis, pyogenic osteomyelitis, fungal infections and tumors. In syphilis, the bone is thickened by periosteal reaction. Clinically, pyogenic osteomyelitis tends to be acutely painful, swollen, and hot, with generalized fever. Tuberculous osteomyelitis is more often only mildly painful, pyrexia is minimal, and the whole condition is relatively benign.

Diagnosis of tubercular dactylitis is made on radiographic features as explained above and culture of Mycobacterium tuberculosis. As it is a paucibacillary lesion, it becomes difficult to demonstrate or culture acidfast mycobacteria from these lesions. However, the gold standard for the diagnosis of osseous tuberculosis is culture of Mycobacterium tuberculosis from bone tissue. The significance of a history of trauma, reported by one third of patients, is unknown. Pulmonary tubercular involvement is uncommon in cases of tubercular dactylitis. In endemic regions, the clinical features, radiological appearance and elevated ESR are sufficient to diagnose tuberculosis and begin treatment. Management is essentially by antitubercular drugs, rest to the involved part in functioning position and early active exercise1. Current recommendations for the treatment include a two month initial phase of Isoniazid, Rifampicin, Pyrazinamide, and Ethambutol followed by a six to 12 month regimen of Isoniazid and Rifampicin. Few studies argue that six month of antitubercular treatment is appropriate for tubercular dactylitis because of its paucibacillary nature.

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2009 ·IRRADIATED - Radiology by TNB

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