Sindrom Apert.pptx 3x20c

Patient Status • Name

: PN

• Age

: 3 years old

• Sex

: Female

• Address

: Kersan, Weru, Sukoharjo

• No. RM

: 01-22-45-09

CHIEF COMPLAINT Deformities of hand and feet

CURRENT HISTORY Patient was a refered patient from pediatric department with Apert Syndrome. the main complaint of this patient is deformities of hand and feet. The deformity suffered by patient since birth. Mother of patient it, there were no complaint during pregnancy and she control of pregnancy every month.

PREVIOUS HISTORY

Operation history (-) Same complaint (-) Alergic history (-)

FAMILY HISTORY

Same complaint (-)

SISTEMIC ANAMNESIS • Eyes

: exopthalmus (+/+)

• Ear

: normal

• Mouth

: normal

• Respiration system : normal • Cardiovasculer system : normal • Gastrointestinal system

: normal

• Muskuloskeletal system

: normal

• Genitourinaria system : normal

Physical Examination • General status : Compos mentis, GCS E4V5M6, • Vital sign :

BP : 120/80 mmHg N : 92 x/minute, regular, RR

: 22 x/minute

T : 36.8o C per axillar

GENERAL SURVEY • Head : Macrocephal • Eyes : Conjungtiva anemis (-/-), sclera icteric (-/-), eksopthalmus (+/+) • Nose : Deviation of septum (-), discharge (-) • Ear : Discharge (-/-), blood (-/-) • Mouth : normal • Neck: normal • Thorax : normochest, retraction (-)

GENERAL SURVEY Thorax • Inspection

: movement of hemithorax symetric

dextra sinistra, ictus cordis is not visible • Palpation : fremitus tactil symetric dextra

sinistra • Percusion : sonor/sonor, heart border normal • Auscultation

: vesicular (+/+) normal, additional

sound (-/-), heart sound normal, regular, abnormal sound (-)

GENERAL SURVEY Abdomen • Inspection

: distended (-)

• Auscultation : bowel sound (+) normal • Percusion : tympanic • Palpation : pain (-), Genitourinaria

: normal

Musculoskeletal : normal Extremity : normal

LOCAL STATUS Upper extremity Inspection : Syndactily (+/+) Lower extremity Inspection : Syndactily (+/+)

ASSESMENT I • Syndactily e.c Syndrome Apert

PLANNING I • Blood examination • Cervical X-ray • Thoracolumbal X-ray • CT Scan non contrast of head • Head X-ray • Thorax X-ray • Inf NaCl 0.9 % 1500 cc/ 24 hours

Blood test Hemoglobin

12.0

g/dL

12.0 - 15.6

Hematocrit

38

%

33 - 45

Leucosit

7.9

thousand/µl

4.5 - 11.0

Trombosit

294

thousand/µl

150 - 450

Eritrosit

5.08

million/µl

4.10 - 5.10

Albumin

5.1

g/dl

3.8 - 5.4

Natrium blood

134

mmol/l

136 - 145

Kalium blood

4.4

mmol/l

3.3 - 5.1

Chlorida blood

106

mmol/l

98 - 106

Radiology CT Scan non-contrast of head (8 April 2016) Major fontanelle is still open At Scano: brachiocephaly type of head shape  

Radiology Cervical X-ray(February 25, 2016)         Photos cervical abnormalities not visible

Radiology Thoracolumbal X-ray (3 April 2016)         normal

Radiology Head X-ray (February 25, 2016)  s picture Apert Syndrome

Radiology Thorax X-ray (1 April 2016) Pneumonia

ASSESMENT II • Syndactily e.c Syndrome Apert

PLANNING II • Pro reconstruction of hand • Pro reconstruction of foot

DEFINITION • Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. • Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet

PATHOPHYSIOLOGY • In 1995, the molecular etiology of Apert syndrome was first defined when it was reported that one or the other of two specific point mutations, Ser252Trp or Pro253Arg, in fibroblast growth factor receptor 2 (FGFR2) located on chromosome 10q26 • The significance of the FGFR signaling pathway in skeletal development is further underscored by the numerous disorders resulting from FGFR mutations, such as the chondrodysplasia and craniosynostosis syndromes

PATOPHYSIOLOGY • It was shown that both Ser252Trp and Pro253Arg mutations in FGFR2c resulted in enhanced binding to FGF2 and many other fibroblast growth factors expressed in the cranial suture • the Ser252Trp mutation displayed a greater increase in affinity over the Pro253Arg mutation for most FGF ligands. This correlated well with the more severe craniofacial phenotype in Ser252Trp Apert syndrome patients • The binding affinity of each Apert syndrome mutant FGFR2c to FGF10 (Pro253Arg -> Ser252Trp) mirrored the

CLINICAL FINDING (SKULL AND FACE) • With craniosynostosis, coronal sutures most commonly are involved, resulting in acrocephaly, brachycephaly, turribrachycephaly, flat occiput, and high prominent forehead. • other characteristics include the following: • • • •

Large late-closing fontanels are observed A gaping midline defect is present A rare cloverleaf skull anomaly is present in approximately 4% of infants Common facial features during infancy include horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoid-shaped mouth at rest • A flattened, often asymmetrical face is observed • Maxillary hypoplasia with retruded midface is present

CLINICAL FINDING (EARS, EYES, NOSE, MOUTH) • Patients have apparent low-set ears with occasional conductive hearing loss and congenital fixation of stapedial footplate. • Eyes exhibit down-slanting palpebral fissures, hypertelorism, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, optic atrophy, and, rarely, luxation of the eye globes, keratoconus, ectopic lentis, congenital glaucoma, lack of pigment in the fundi with occasional papilledema, and preventable visual loss or blindness.

CLINICAL FINDING (EARS, EYES, NOSE, MOUTH) • The nose has a markedly depressed nasal bridge. It is short and wide with a bulbous tip, parrot-beaked appearance, and choanal stenosis or atresia. • The mouth area has a prominent mandible, down-turned corners, high arched palate, bifid uvula, and cleft palate.

CLINICAL FINDING (EXTREMITIES AND DIGITS) • The upper limbs are more severely affected than lower limbs. Coalition of distal phalanges and synonychia found in the hands is never present in the feet. The glenohumeral t and proximal humerus are more severely affected than the pelvic girdle and femur • Syndactyly involves the hands and feet with partial-to-complete fusion of the digits, often involving second, third, and fourth digits. These are often termed mitten hands and sock feet. In severe cases, all digits are fused, with the palm deeply concave and cup-shaped and the sole supinated.

CLINICAL FINDING (CNS) • Intelligence varies from normal to mental deficiency, although a significant number of patients are mentally retarded. Malformations of the central nervous system (CNS) may be responsible for most cases. • Common CNS malformations include megalencephaly, agenesis of the corpus callosum, malformed limbic structures, variable ventriculomegaly, encephalocele, gyral abnormalities, hypoplastic cerebral white matter, pyramidal tract abnormalities, and heterotopic gray matter • Papilledema and optic atrophy with loss of vision may be present in cases of subtle increased intracranial pressure.

CLINICAL FINDING (SKIN) • Cutaneous characteristics include the following: • Hyperhidrosis (common) • Synonychia • Brittle nails • Acneiform lesions (frequent after adolescence) • Interruption of the eyebrows • Hypopigmentation • Hyperkeratosis in the plantar surface • Paronychial infections (more common in feet than hands and in patients who are institutionalized patients) • Excessive skin wrinkling of forehead • Skin dimples at knuckles, shoulders, and elbows

CLINICAL FINDING (CARDIOVASKULAR) • Cardiovascular characterstics include the following: • Atrial septal defect • Patent ductus arteriosus • Ventricular septal defect • Pulmonary stenosis • Overriding aorta • Coarctation of aorta • Dextrocardia • Tetralogy of Fallot

CLINICAL FINDING (GENITOURINARY) • Polycystic kidneys • Duplication of renal pelvis • Hydronephrosis • Stenosis of bladder neck • Bicornuate uterus • Vaginal atresia • Protuberant labia majora • Clitoromegaly • Cryptorchidism

CLINICAL FINDING (GASTROINTESTINAL) Gastrointestinal (GI) characteristics (1.5%) include the following: • Pyloric stenosis • Esophageal atresia and tracheoesophageal fistula • Ectopic or imperforate anus • Partial biliary atresia with agenesis of gallbladder

CLINICAL FINDING (RESPIRATORY) Respiratory characteristics (1.5%) include the following: • Anomalous tracheal cartilage • Tracheoesophageal fistula • Pulmonary aplasia • Absent right middle lobe of lung • Absent interlobular lung fissures

Laboratory Studies Molecular analysis of Apert syndrome • The molecular mechanism is exquisitely specific with a narrow mutational spectrum. • More than 98% of cases are caused by specific missense substitution mutations, involving adjacent amino acids (Ser252Trp, Ser252Phe, or Pro253Arg) in exon 7 of FGFR2. • The remaining cases are due to Aluelement insertion mutations in or near exon 9.

Imaging Studies Skull radiography • Skull radiography can be performed to evaluate for craniostenosis, which usually involves coronal sutures and maxillary hypoplasia. • Abnormalities include sclerosis of suture line, bony bridging and beaking along the suture line, an indistinct suture line, turribrachycephaly, shallow orbits, and hypoplastic maxillae.

Spinal radiography • Spinal fusions, most commonly at the levels of C34 and C5 6, appear to be progressive and occur at the site of subtle congenital anomalies. They may not be apparent as congenital features. • Smallsized vertebral body and reduced intervertebral disc space are indicators of subsequent bony fusion

Hand radiography • Radiography of the hands can be performed to evaluate for cutaneous and osseous syndactyly. • The characteristic finding is complete syndactyly involving the second and fifth digits (mitten hands). • Multiple progressive synostosis involves distal phalanges, proximal fourth and fifth metacarpals, capitate, and hamate. • Symphalangism of interphalangeal ts is progressive. • Radiography of the distal phalanx reveals shortened and radial deviation. • Radiography of the proximal deltashaped deformity

phalanx

of

the

thumbs

reveals

Foot radiography • Radiography of the feet can be performed to evaluate for cutaneous and osseous syndactyly. The characteristic finding is complete syndactyly involving the second and fifth digits (sock feet). • Fusion of tarsal bones, metatarsophalangeal interphalangeal ts, and adjacent metatarsals

and

• Deltashaped proximal phalanx of the first toes • Occasional partial or complete duplication of the proximal phalanx of the great toes and first metatarsals

CT scanning • CT with comparative 3dimensional reconstruction analysis of the calvaria and cranial bases has become the most useful radiological examination in identifying skull shape and presence or absence of involved sutures. • CT can precisely reveal the pathological anatomy and permit specific operative planning.

MRI • MRI reveals the anatomy of the softtissue structures and associated brain abnormalities (ie, nonprogressive ventriculomegaly; hydrocephalus; complete or partial absence of the septum pellucidum; absence of septal leaflets; and thinning, deficiency, or agenesis of the corpus callosum). • MRI can also reveal spatial arrangement of the bones.

Apert Syndrome Treatment & Management

Medical Care Protection of the cornea • Instill lubricating bland ointments in the eyes at bedtime to protect corneas from desiccation • Artificial teardrops during the day Upper airway obstruction during the neonataperiod • Remove excessive nasal secretions • Treat upper airway infection • Humidification with added oxygen Judicious use of topic nasal decongestants

Sleep apnea • Polysomography (a sleep recording of multiple physiologic variables), currently the most reliable method for determining the presence of sleep apnea • Continuous positive pressure Chronic middle ear effusion associated with bilateral conductive hearing deficit Antimicrobial therapy Psychological and social challenges confronted by individuals with Apert syndrome • Emotional adjustment • Body image development • Impact of surgery and hospitalization on children with Apert syndrome

Surgical Care • Protection of the cornea: Lateral or medial tarsorrhaphy is performed in severe cases to narrow the palpebral fissure cosmetically and to protect the corneas and the vision. • Upper airway obstruction during the neonatal period: This rarely requires orotracheal intubation. • Sleep apnea: Tracheostomy is indicated in severely affected children. • Chronic middle ear effusion associated with bilateral conductive hearing deficit: Bilateral myringotomy and placement of ventilation tubes are the most effective treatment.

Cranial surgery • Removes synostotic sutures • Reshapes the calvaria • Allows more normal cranial development to proceed with respect to shape, volume, and bone quality • Relieves increased intracranial pressure

Orbital surgery • Correction of ocular proptosis • Reduction of increased (hypertelorism)

interorbital

• Correction of increased interior malrotation

distance

Nasal surgery • Infants and children: Nasal reconstruction focuses on correction of the excessively obtuse nasofrontal angle, flat nasal dorsum, and ptotic nasal tip. • Teenagers and adults: Reduction of the nasal tip bulk is indicated

Midfacial surgery • Normalization of midface appearance • Expansion of the inferior orbit • Volumetric expansion of the nasal and nasopharyngeal airways • Establishment of a normal dentoskeletal relationship