Ординатура / Офтальмология / Английские материалы / Rapid Diagnosis in Ophthalmology Series Pediatric Ophthalmology and Strabismus_Strominger, Duker, Macsai_2007

Disorders Retinal Hereditary Pediatric: • 5 SECTION

Sphingolipidoses

Key Facts

•Inherited disorder of sphingolipid degradation resulting in excessive intralysosomal accumulation

•Cherry red spot secondary to choroidal circulation view in fovea, where ganglion cells that accumulate sphingolipids are absent

•With death of ganglion cells, cherry red spot fades and optic atrophy develops along with nystagmus and retinal vessel attenuation

•GM2 type 1 gangliosidosis (Tay–Sachs disease):

•hexosaminidase A deficiency

•most common of the gangliosidoses occurring in persons of Ashkenazi Jewish descent

•progressive neurodegeneration with spasticity and seizures

•GM2 type 2 gangliosidosis (Sandhoff disease):

•hexosaminidase B deficiency

•GM1 type 1 gangliosidosis:

•β-galactokinase deficiency

•occasional corneal clouding and retinal hemorrhages

•coarse facial features

•hepatomegaly

•Metochromatic leukodystrophy (arylsulfatase deficiency):

•demyelination from sulfatide accumulation and cerebellar atrophy

•Niemann–Pick disease types A and B (sphingomyelinase deficiency):

•failure to thrive, with feeding difficulties

•respiratory infections

•hepatosplenomegaly

•more prevalent in Ashkenazi Jewish population

Clinical Findings

•Rapid or slow neurodegeneration along with seizures, depending on type

•Cherry red spot

•Optic atrophy

Ancillary Testing

•Full systemic work-up

•Genetic evaluation

Differential Diagnosis

•Other diseases with a cherry red spot:

•sialidosis types 1 and 2

•mucolipidosis type 3

•Farber disease

Treatment

•Limited treatments, mainly supportive

•Seizure control

•Possible bone marrow transplantation, depending on type

Prognosis

• Overall poor

Tumors Pediatric: • 6 SECTION

Rhabdomyosarcoma

Key Facts

•Most common primary orbital malignancy of childhood

•Malignant neoplasm of extraocular muscle precursor cells

•Age of diagnosis 7–8, with slight male predominance

•Associated nosebleed and sinusitis

Clinical Findings

•Sudden and rapid onset of proptosis

•Bruising around orbit

•Superior nasal orbital mass

Ancillary Testing

•Orbital biopsy with electron microscopy

•MRI with contrast and fat suppression:

•irregular well-circumscribed mass

•CAT scan:

•displays bone destruction

•Oncology evaluation with metastatic work-up

Differential Diagnosis

•Lymphangioma

•Hemangioma

•Orbital pseudotumor

•Orbital cellulitis

•Dermoid

•Neuroblastoma

Treatment

•Surgical resection of smaller well-circumscribed tumors or debulking of larger tumors

•Combination chemotherapy and external beam irradiation

Prognosis

•Depends on subtype, but 90% survival with isolated confined orbital lesions

•Visual outcome depends on degree of:

•proptosis • corneal exposure • complications of radiation treatment (including retinopathy, keratoconjunctivitis sicca, optic atrophy)

Fig. 6.1 Axial T1 fat saturation MRI with gadolinium, showing enhancing intraorbital rhabdomysarcoma.

Fig. 6.2 Right superior intraorbital rhabdomysarcoma.

Rhabdomyosarcoma

Tumors Pediatric: • 6 SECTION

Neuroblastoma

Key Facts

•Orbital metastatic tumor seen in 20% of patients with neuroblastoma

•Originates from adrenal gland or sympathetic ganglion in retroperitoneum or mediastinum

•Systemic symptoms include:

• abdominal distension • renal vascular hypertension • bone pain

Clinical Findings

•Orbital metastasis:

•proptosis • lid ecchymosis

•Intrathoracic or sympathetic tumor:

•Horner syndrome

•Paraneoplastic syndrome:

•opsoclonus (rapid, random, saccadic nystagmus)

Ancillary Testing

•Biopsy of lesion diagnostic

•Urine catecholamines positive in 90% of cases

•Abdominal ultrasound, CT scan, or MRI with full metastatic evaluation

Differential Diagnosis

•Lymphangioma

•Orbital dermoid or teratoma

•Rhabdomyosarcoma

•Hemangiopericytoma

•Rhabdomyosarcoma

•Burkitt lymphoma

•Optic glioma

•Sinus mucocele

Treatment

•Excision of isolated tumor

•Radiation and chemotherapy

Prognosis

•Prognosis worse with orbital involvement

•Opsoclonus without orbital involvement has better prognosis

Tumors Pediatric: • 6 SECTION

Leukemia

Key Facts

•Ocular findings with acute lymphoblastic, acute myelogenous, and acute monocytic leukemia

Clinical Findings

•Flame-shaped retinal hemorrhages

•White-centered retinal hemorrhage

•Choroidal thickening

•Optic nerve swelling if leukemic infiltration

•Possible anterior segment leukemic infiltration with heterochromia iridis, keratic precipitates, spontaneous hyphema, and/or hypopyon

•Glaucoma may develop from tumor cells clogging trabecular meshwork or pupillary block from synechiae formation

Ancillary Testing

•Anterior chamber paracentesis for cytologic evaluation

•Systemic evaluation including white blood cell count and bone marrow aspiration

•B-scan ultrasound if choroidal involvement suspected

Differential Diagnosis

•Intraretinal hemorrhages:

•anemia or other bleeding diathesis

•disseminated endothelial infection (e.g. subacute bacterial endocarditis)

•diabetes mellitus

•Optic disc swelling:

•optic neuritis

•autoimmune optic neuropathy (e.g. sarcoid)

•infectious optic neuropathy (e.g. Lyme disease)

•Anterior chamber inflammation or hyphema:

•juvenile rheumatoid arthritis

•trauma

•juvenile xanthogranuloma

Treatment

•Chemotherapy

•Radiation treatment if optic nerve involvement and infiltration

Prognosis

•Depends on extent of systemic and ocular involvement

•Typically poorer prognosis in children who have ocular involvement

•Risk of complication from irradiation, including:

•cataract formation • radiation retinopathy • keratoconjunctivitis sicca • optic atrophy