| Type of hepatitis | Therapy |
| | |
| Chronic hepatitis B | IFN-alpha, PEG IFN-alpha, lamivudine,adefovir,entecavir |
| Chronic hepatitis C | PEG IFN-alpha ,ribavirin |
| Chronic hepatitis D | IFN-alpha, PEG IFN-alpha |
| Autoimmune hepatitis | Prednisone, azathioprine |
| Drug-associated | Withdraw drug |
| Cryptogenic | Prednisone?azathioprine? |
| Type of hepatitis | Autoantibodies |
| | |
| Chronic hepatitis B | uncommon |
| Chronic hepatitis C | Anti LKM 1 |
| Chronic hepatitis D | Anti LKM3 |
| Autoimmune hepatitis | ANA,anti-LKM 1, anti-SLA |
| Drug-associated | uncommon |
| Cryptogenic | none |
| Type of auto immune hepatitis | Antibody associated |
| | |
| Auto immune hepatitis type 1 | Anti nuclear antibodies ( ANA ) |
| Auto immune hepatitis type 2 | Anti LKM 1 antibodies |
| Auto immune hepatitis type 3 | Anti – |
| Type of hepatitis | Diagnostic tests |
| | |
| Chronic hepatitis B | HBsAg,IgG anti-HBc,HBeAg,HBV DNA |
| Chronic hepatitis C | Anti-HCV,HCV RNA |
| Chronic hepatitis D | Anti-HDV,HDV RNA,HbsAg,IgG anti HBc |
| Autoimmune hepatitis | ANA(homogenous),anti-LKM1 (+-),hyperglobulinemia |
| Drug-associated | ------------------- |
| Cryptogenic | All negative |
Generalized tonic clonic seizures | V A L P R O A T E |
Juvenile myoclonic epilepsy | V A L P R O A T E |
Absence seizures | V A L P R O A T E |
Atypical absence seizures | V A L P R O A T E |
Myoclonus | V A L P R O A T E |
Atonic seizures | V A L P R O A T E |
Simple partial seizures | Carbamazepine |
Complex partial seizures | Carbamazepine |
Benign partial seizures | Carbamazepine |
Secondary generalized seizures | Carbamazepine |
Trigeminal neuralgia | Carbamazepine |
Status epilepticus | Lorazepam |
Neonatal seizures | Phenobarbitone |
WEST syndrome | ACTH / Prednisolone |
Infantile spasms in tuberous sclerosis | Vigabatrin |
| Type of auto immune hepatitis | Antibody associated |
| | |
| Auto immune hepatitis type 1 | Anti nuclear antibodies ( ANA ) |
| Auto immune hepatitis type 2 | Anti LKM 1 antibodies |
| Auto immune hepatitis type 3 | Anti – |
| Type of LKM antibody | Condition associated |
| | |
| Anti LKM 1 antibodies | Chronic Hepatitis C , auto immune hepatitis type 2 |
| Anti LKM 2 antibodies | Drug induced hepatitis |
| Anti LKM 3 antibodies | Chronic hepatitis D |
Signs and Symptoms
Pseudotumor cerebri (PTC) is encountered most frequently in young, overweight women between the ages of 20 and 45. Headache is the most common presenting complaint, occurring in more than 90 percent of cases. Dizziness, nausea, and vomiting may also be encountered, but typically there are no alterations of consciousness or higher cognitive function. Tinnitus, or a "rushing" sound in the ears, is another frequent complaint. Visual symptoms are present in up to 70 percent of all patients with PTC, and include transient visual obscurations, general blurriness, and intermittent horizontal diplopia. These symptoms tend to worsen in association with Valsalva maneuvers and changes in posture. Reports of ocular pain, particularly with extreme eye movements, have also been noted.
Funduscopic evaluation of patients with PTC demonstrates bilaterally swollen, edematous optic nerves consistent with true papilledema. Ophthalmoscopy may reveal striations within the nerve fiber layer, blurring of the superior and inferior margins of the neural rim, disc hyperemia, and capillary dilatation. More severe presentations involve engorged and tortuous retinal venules, peripapillary hemorrhages and/or cotton wool spots, and circumferential retinal microfolds (Paton’s lines). Chronic papilledema mayresult in atrophy of the nerve head, with associated pallor and gliosis. Most cases of true papilledema will not present with a relative afferent pupillary defect, although visual field deficits may be present. The most common visual field defect associated with PTC is an enlarged blind spot, followed by a nasal deficit, typically affecting the inferior quadrants. Other field losses seen in PTC include arcuate defects, nasal step, generalized constriction, and least commonly, cecocentral scotoma.
Pathophysiology
Pseudotumor cerebri is a syndrome disorder defined clinically by four criteria: (1) elevated intracranial pressure as demonstrated by lumbar puncture; (2) normal cerebral anatomy, as demonstrated by neuroradiographic evaluation; (3) normal cerebrospinal fluid composition; and (4) signs and symptoms of increased intracranial pressure, including papilledema.
While the mechanism of PTC is not fully understood, most experts agree that the disorder results from poor absorption of cerebrospinal fluid by the meninges surrounding the brain and spinal cord. The subsequent increase in extracerebral fluid volume leads to elevated intracranial pressure. However, because the process is slow and insidious, there is ample time for the ventricular system to compensate and this explains why there is no dilation of the cerebral ventricles in PTC. Increased intracranial pressure induces stress on the peripheral aspects of the brain, including the cranial nerves. Stagnation of axoplasmic flow in the optic nerve (CN II) results in papilledema and transient visual obscurations; when the abducens nerve (CN VI) is involved, the result is intermittent nerve palsy and diplopia.
Many conditions and factors have been proposed as causative agents of PTC, including excessive dosages of some exogenously administered medications (e.g., vitamin A, tetracycline, minocycline, naladixic acid, corticosteroids), endocrinologic abnormalities, anemias, blood dyscrasias, and chronic respiratory insufficiency. However the majority of cases remain idiopathic in nature.
Management
All patients presenting with suspected papilledema or other manifestations of intracranial hypertension warrant prompt medical evaluation and neurologic testing. Current protocol dictates that patients presumptively diagnosed with papilledema must undergo neuroimaging via computed tomography or, preferably, magnetic resonance imaging within 24 hours. These tests are meant to rule out space-occupying intracranial mass lesions, and therefore should be ordered with contrast media unless otherwise contraindicated. In cases of PTC, neuroimaging typically displays small to normal-sized cerebral ventricles with otherwise normal brain structure. Patients with unremarkable radiographic studies should be subsequently referred for neurosurgical consultation and lumbar puncture. (Lumbar puncture should not be ordered until neuroimaging is found negative for space-occupying mass due to risk for herniation of brainstem through foramen magnum secondary to mass during lumbar puncture.) Additional medical testing includes serologic and hematologic studies.
Therapy for patients with PTC varies, but in most instances initiate systemic medications as a first line treatment. Typically, the drug of choice for the initial management of PTC is oral acetazolamide (Diamox), although other diuretics including chlorthalidone (Hygroton) and furosemide (Lasix) may also be used effectively. Corticosteroid therapy is considered controversial in the management of PTC. While a short-term course of oral or intravenous dexamethasone may be helpful in initially lowering intracranial pressure, it is not considered to be an effective long-term therapy because of the potential for systemic and ocular complications.
For patients in whom conventional medical therapy fails to alleviate the symptoms and prevent pathologic decline, surgical intervention is the only definitive treatment. Cerebrospinal fluid shunting procedures are commonly employed in recalcitrant cases of PTC, but are successful in only 70 to 80 percent of cases. Optic nerve sheath decompression has also been advocated as a method to alleviate chronic disc edema, although this technique fails to directly address the issue of elevated intracranial pressure. It also demonstrates a particularly high failure rate.
Optometric management of patients diagnosed with PTC includes careful and frequent evaluation, including threshold visual fields, acuity measurement, contrast sensitivity, and indirect ophthalmoscopy. Photodocu-mentation of the nerve heads should also be performed.
Clinical Pearls
· PTC is a diagnosis of exclusion.
· Past literature refers to PTC as benign idiopathic intracranial hypertension, however this condition is far from benign. Patients may suffer intractable headache, severe nausea, intermittent diplopia and permanent vision loss, if they are not properly managed.
· Although no single causative agent has been identified, it is clear that one very common factor in patients with PTC appears to be obesity in women of childbearing age. Interestingly, significant weight loss in conjunction with conventional therapy leads to complete remission of this disorder in many instances.
· Patients with PTC should be enrolled in a formal weight-reduction program as a therapeutic measure.
· While PTC occurs most commonly in females of childbearing age, a number of cases have been encountered in male children.
Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth syndrome, which can affect all systems of the body. It was first recognised in 1963-64 by Dr J. Bruce Beckwith, a paediatric pathologist in
BWS occurs once in approximately every 15,000 births. This figure may be an under-estimate because of mild cases not being diagnosed. Cases have been reported in most developed countries. In the great majority of cases it appears to be an isolated event with no known relatives, but there is some evidence that the condition can be inherited.
Like many such disorders, Beckwith-Wiedemann Syndrome can vary in its effects from child to child i.e. some children are relatively mildly affected while others have a wider range of physical problems. There are, however, some characteristics that are common to most BWS children. Most problems can be helped or even solved provided that accurate diagnosis is made and appropriate treatment started. Those children who survive infancy, the great majority, are usually healthy, with their growth and appearance gradually becoming normal.
There are many characteristics that are associated with BWS, but most children who are affected have only a few of them. The most commonly found are described below:
BWS children are usually born prematurely but are larger and heavier than one would expect, given the shorter length of gestation.
Height and weight over the 95% centile
An enlarged tongue, which may cause breathing, feeding and speaking difficulties, as well as excessive dribbling. It may increase susceptibility to respiratory problems such as bronchitis or excess mucus. It may also result in the protrusion of the lower jaw.
Reddened skin on the forehead and eyelids. This usually fades in the first few years.
These are sometimes found in conjunction with indentations behind the upper rim of the ear.
Tumours of the kidney. Around 7.5% of BWS children will develop Wilms Tumour. Because of the aggressiveness of these tumours, abdominal ultrasound scans should take place every three months up to the age of 7 or 8 years. A baseline MRI scan may also be performed. The susceptibility to these tumours diminishes and is not usually a problem after the age of 8. Children with one side of the body bigger than the other or enlarged kidneys appear to be more susceptible to Wilms tumour than other BWS children.
Dr. Beckwith recommends that if a brother or sister has one or two of the characteristics of BWS then that child should also have ultrasound scans every three months.
These vary in severity. The worst problem is an omphalocele which allows intestines and possibly other organs to protrude externally into a covering membrane. Less serious is an umbilical hernia and the least worse case is undue weakness and separation of the abdominal muscles, which leads to a pot-bellied appearance. Lax abdominal musculature can cause problems with constipation.
Enlarged abdominal organs, usually the kidneys, liver, spleen, adrenals and pancreas.
Low blood sugar. This occurs in approximately 40% of BWS children shortly after birth. Brain damage and other complications can result if it is not diagnosed and treated.
Overgrowth of one half of the body or of one limb while the rest of the body grows at a normal rate.
Liver tumours. The risk of these diminishes after the age of 3 years. They can also be detected by abdominal ultrasound but, as not all the liver can be viewed, afp (alpha-feta-protein) levels in the blood are also monitored 3 monthly.
Enlarged heart or heart defects. These are relatively uncommon and may resolve without treatment.
Currently diagnosis of BWS is made by clinical evaluation and not by genetic testing. Diagnosis is generally based upon the child showing two out of the five major characteristics. These major characteristics are: macroglossia; unexplained hypoglycaemia in the first four months; ear creases or pits; abdominal wall defect (even a mild umbilical hernia); and macrosomia at birth.
Usually responds well to treatment with hydrocortisone, intravenous glucose and/or diet within 1 to 4 months.
If an omphalocele is present, surgery will be required soon after birth and an umbilical hernia may also sometimes need correction. Constipation may require medication.
Surgery may be necessary to reduce the tongue size. In some cases the tongue is accommodated successfully in the mouth as the child grows but often the lower jaw is pushed forward. Some operations for tongue reduction are done before the child is a year old. Speech therapy may be necessary in some cases. All BWS children should be reviewed by a craniofacial team (surgeon, orthodontist and speech therapist) familiar with BWS.
This will require surgery to remove the affected kidney and possibly chemotherapy and radiotherapy.
May require orthopaedic surgery.
A formula to estimate creatinine clearance based on the age of the patient and the weight:
Creatinine Clearance = (140 - age) x lean body weight (in kg.)
____________________________________________________
Plasma creatinine (mg/dl) x 72
This formula provides an estimate of creatinine clearance ( and thus an overestimate of GFR). It is, however, useful clinically to approximate GFR.
