Goldenhar's Syndrome Case Study

Introduction Stomatitis areata migrans (SAM) was first described by Cooke in 1955 1. It has been considered a more extensive involvement of the same process found in the geographic tongue. Geographic tongue is an interesting lesion of unknown etiology, although it has been related to emotional stress. Geographic tongue is also known as wandering rash of tongue, benign migratory glossitis, glossitis areata exfoliativa and erythema migrans. The condition consists usually of multiple areas of desquamation of the filiform papilae of the tongue in an irregular circinate pattern.

Pupils 2 mm diameter, bilaterally equal and reactive light. Ear without swelling, large amount of cerumen in ear canal. Nares clear, no redness, drainage or swelling.

Meckel’s diverticulum is the most prevalent congenital abnormality of the gastrointestinal tract associated with many diverse and unusual complications has an incidence of 2- 3% (1) . Meckel’s Diverticulum is a true diverticulum comprising all intestinal layers. It is usually an incidental finding. Strangulation of Meckel’s diverticulum (Littre’s Hernia) is a rare anatomo -clinical form.

Moebius syndrome is a rare congenital disorder first described by Paul Julius Moebius in 1888. Its estimated prevalence in the United States is reported as 0.002-0.0002% of births, or 1 case per 50,000 newborns 1, 2. The cardinal sign of Moebius Syndrome is facial paralysis. Patients with Moebius syndrome exhibit unilateral or bilateral peripheral palsy of the abducens (VI) and the facial (VII) cranial nerves. Involvement of these nerves gives these patients the characteristic mask-like face with adducted eyes and down-turned mouth angles prohibiting voluntary facial movements 3, 4 .Dysfunction of cranial nerves III through XII is common, in particular glossopharyngeus (IX) and hypoglossus (XII) 4.

Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

Diagnosis: Diagnosis of acute Charcot joint or neuropathy is quite difficult, clinical suspicion is highly important. Infection is the primary differential diagnosis, most prominently either cellulitis or osteomyelitis. Imaging and examination are used to find out if there is infection; if not, then the diagnosis would most likely be Charcot joint. Clinical image such as a warm, edematous, erythematous joint with intact pulses in the absence of infection is Charcot foot until proven otherwise. If edema and erythema disappear with 5-10 minutes of leg rising in the supine patient, it is suggestive of Neuropathy.

There was no focal neurological deficit on central nervous system examination. All laboratory tests were normal. Cervical computed tomography (CT) revealed bony ankylosis from C2 to C7. And there was a suspected fracture on C3 (Fig. 1). Axial images showed large bridging syndesmophytes at C3 to C7 level.

The patient responded well to treatments for cervical myalgia. After one week scapular mobilizations were added during clinic visits, including lateral glides with distraction and external rotation with distraction. After four weeks, her cervical active ROM was normal and she reported no headaches, however she reported no change in her upper extremity symptoms. She stopped wearing wrist splints after three weeks, complaining of increased stiffness in the wrists and hands and no benefit to night pain. The patient reported that tendon gliding exercises neither provoked nor relieved hand and upper extremity symptoms.

Megan suffered from Fanconi anaemia. For Megan to make a full recovery she required stem cells. But with no donors were available her parents decided the best option was to have a saviour sibling child. A second child would only have a 1 in 4 chance of being a perfect match, and they could also carry the genotype for Fanconi anaemia.

Tubo tympanic type is otherwise called safe type or benign type, because it is not associated with any serious complications. This form of disease is characterized by a perforation of pars tensa in which the margins of the perforation are surrounded by a rim of pars tense or annulus. Disease in the middle ear cleft is confined to the mucosa and it is rarely the seat of complications. Clinically tubo-tympanic disease can be found with 3 presentations, VIZ

No actual pain. No sensation in the mouth. No dysarthria or dysphagia. No other motor, sensory, or cerebellar symptoms. No cognitive symptoms.

Additional features include hearing loss, palatal abnormalities, genitourinary abnormalities, cardiac septal defects and congenital diaphragmatic hernias. Growth retardation typically has a prenatal onset, is an almost universal finding in CdLS. The mental retardation in CdLS is often severe, with a mean IQ of 53 (range 30–86) (Kline et al. 1993b). Many patients also demonstrate autistic-like behavior affecting communication and social interaction and self-injurious behavior (Jackson et al.

Cranial nerves continue intact, including the extraocular eye movements being intact without nystagmus. Visual fields are full in both eyes. He had no papilledema or atrophy of either optic disc. Pupils react from 4 down to 2 mm, bilaterally brisk and round to light and accommodation. He continues to have good strength with normal bulk and tone throughout his extremities.

She stated no mental health treatment as a child. She reported no history of psychiatric issues or medical problems.

There are no blood tests that can provide assistance in establishing a diagnosis of GBS. Specifically, the white blood cell count is usually normal and no antibodies against nerve components can be reliably detected in the blood. Theories of causation of Guillain-Barre Syndrome Many different kinds of infections can trigger an attack of GBS most commonly a respiratory infection that causes cold or influenza-like symptoms, such as fever, runny nose, cough, and generalized aches and pains. There is no relationship between the severity of the symptoms and the subsequent development of GBS.