Gilbert’s syndrome:
-It is inherited as autosomal dominant.
-There is reduction of glucuronyl transferase and abnormality in uptake of bilirubin.
-Mild jaundice, especially with fasting.
-No treatment is necessary, only reassurance is sufficient.
#Liver
-It is inherited as autosomal dominant.
-There is reduction of glucuronyl transferase and abnormality in uptake of bilirubin.
-Mild jaundice, especially with fasting.
-No treatment is necessary, only reassurance is sufficient.
#Liver
Crigler-Najjar syndrome:
There are two types:
•Type I is inherited as autosomal recessive.
-There is absence of glucuronyl transferase, the patient dies in neonatal period due to kernicterus.
•Type II is inherited as autosomal dominant.
-There is reduction of glucuronyl transferase.
-The patient usually survives up to adulthood.
-Treatment is by phenobarbitone, ultraviolet light or liver transplantation.
#Liver
There are two types:
•Type I is inherited as autosomal recessive.
-There is absence of glucuronyl transferase, the patient dies in neonatal period due to kernicterus.
•Type II is inherited as autosomal dominant.
-There is reduction of glucuronyl transferase.
-The patient usually survives up to adulthood.
-Treatment is by phenobarbitone, ultraviolet light or liver transplantation.
#Liver
Rotor’s syndrome:
- It is inherited as autosomal recessive.
-There is defect in uptake and conjugation bilirubin in the liver.
-Mild disease.
-Urinary total coproporphyrin is increased.
-No treatment is necessary.
#Liver
- It is inherited as autosomal recessive.
-There is defect in uptake and conjugation bilirubin in the liver.
-Mild disease.
-Urinary total coproporphyrin is increased.
-No treatment is necessary.
#Liver
Dubin-Johnson syndrome:
- It is inherited as autosomal recessive.
-There is defect in excretion of bilirubin.
-Usually mild disease.
-Liver is black due to deposition of lipofuscin and melanin.
-Urinary coproporphyrin I is increased.
-No treatment is necessary.
#Liver
- It is inherited as autosomal recessive.
-There is defect in excretion of bilirubin.
-Usually mild disease.
-Liver is black due to deposition of lipofuscin and melanin.
-Urinary coproporphyrin I is increased.
-No treatment is necessary.
#Liver
Remember:
•Post-hepatitis syndrome:
-It is seen in anxious patient who complains of malaise, anorexia, nausea, vomiting, right hypochondrial pain or discomfort in the absence of clinical or biochemical evidence of liver disease.
-Reassurance is necessary.
#Liver
•Post-hepatitis syndrome:
-It is seen in anxious patient who complains of malaise, anorexia, nausea, vomiting, right hypochondrial pain or discomfort in the absence of clinical or biochemical evidence of liver disease.
-Reassurance is necessary.
#Liver
Causes of palmar erythema:
1.Physiological:
-Normal people, may be familial
-Pregnancy.
2.Pathological:
-CLD (commonly alcoholic cirrhosis)
-Thyrotoxicosis
-Polycythemia
-Prolonged rheumatoid arthritis
-Chronic leukemia
-Febrile illness.
Mechanism of palmar erythema in CLD:
-Hyperdynamic circulation
-Probably, high estrogen (controversial).
#Liver
#General
1.Physiological:
-Normal people, may be familial
-Pregnancy.
2.Pathological:
-CLD (commonly alcoholic cirrhosis)
-Thyrotoxicosis
-Polycythemia
-Prolonged rheumatoid arthritis
-Chronic leukemia
-Febrile illness.
Mechanism of palmar erythema in CLD:
-Hyperdynamic circulation
-Probably, high estrogen (controversial).
#Liver
#General
•Flapping tremor (asterixis):
-It is characterized by irregular, flexion-extension movement of wrist and MCP joints, abduction-adduction of fingers, produced by dorsiflexion of wrist and spreading of the fingers.
-It is called flapping, because of resemblance to a bird flapping its wings.
-It is demonstrated by asking the patient to stretch out arms in front, separate the fingers, dorsiflexion of wrist with fixed forearm by the examiner’s hand.
#Neurology
-It is characterized by irregular, flexion-extension movement of wrist and MCP joints, abduction-adduction of fingers, produced by dorsiflexion of wrist and spreading of the fingers.
-It is called flapping, because of resemblance to a bird flapping its wings.
-It is demonstrated by asking the patient to stretch out arms in front, separate the fingers, dorsiflexion of wrist with fixed forearm by the examiner’s hand.
#Neurology
•Features of flapping tremor:
-It is absent at rest, produced by intentional movement, maximum at sustained posture.
-Usually bilateral, and not necessarily synchronous on each side.
-Disappears during coma.
-Occasionally arms, face, neck, tongue,
jaw and eyelids are involved.
#Neurology
-It is absent at rest, produced by intentional movement, maximum at sustained posture.
-Usually bilateral, and not necessarily synchronous on each side.
-Disappears during coma.
-Occasionally arms, face, neck, tongue,
jaw and eyelids are involved.
#Neurology
•Causes of flapping tremor:
1-Hepatic encephalopathy (the commonest cause)
2-Severe cardiac failure
3-Respiratory failure
4-Renal failure
5-Other causes (rare) cerebrovascular accident (CVA), drug toxicity (phenytoin and barbiturate), acute focal parietal or thalamic lesion (vascular) and hypoglycemia.
#Neurology
1-Hepatic encephalopathy (the commonest cause)
2-Severe cardiac failure
3-Respiratory failure
4-Renal failure
5-Other causes (rare) cerebrovascular accident (CVA), drug toxicity (phenytoin and barbiturate), acute focal parietal or thalamic lesion (vascular) and hypoglycemia.
#Neurology
Mechanism of flapping tremor in CLD:
-It is due to impaired inflow of joint position sense and other afferent informations to the brainstem reticular formation, resulting in rhythmical lapse of postural muscle tone.
#Neurology
#Liver
-It is due to impaired inflow of joint position sense and other afferent informations to the brainstem reticular formation, resulting in rhythmical lapse of postural muscle tone.
#Neurology
#Liver
Causes of Dupuytren’s contracture:
1-Cirrhosis of liver (commonly alcoholic)
2-Alcoholism (itself, not by cirrhosis)
3-Prolonged antiepileptic drug (phenytoin)
4-Manual worker (gardener) and chronic vibration injury
5-Traumatic
6-Familial:
(as autosomal dominant, associated with Garrod’s patch on dorsum of hand)
7-Diabetes mellitus:
(diabetic cheiroarthropathy, confuses with systemic sclerosis)
8-Peyronie’s disease
9-Idiopathic (in many cases).
#General
#Plastic
1-Cirrhosis of liver (commonly alcoholic)
2-Alcoholism (itself, not by cirrhosis)
3-Prolonged antiepileptic drug (phenytoin)
4-Manual worker (gardener) and chronic vibration injury
5-Traumatic
6-Familial:
(as autosomal dominant, associated with Garrod’s patch on dorsum of hand)
7-Diabetes mellitus:
(diabetic cheiroarthropathy, confuses with systemic sclerosis)
8-Peyronie’s disease
9-Idiopathic (in many cases).
#General
#Plastic
What are the causes of granuloma in liver?
1-PBC
2-Tuberculosis
3-Sarcoidosis
4-Brucellosis
5-Parasitic (strongyloidiasis)
6-Schistosomiasis
7-Drug (phenylbutazone).
#Liver
1-PBC
2-Tuberculosis
3-Sarcoidosis
4-Brucellosis
5-Parasitic (strongyloidiasis)
6-Schistosomiasis
7-Drug (phenylbutazone).
#Liver
•Pickwickian syndrome:
-It's called Obesity hypoventilation syndrome.
-Sleep-related hypoventilation disorder
-BMI of ≥ 30 kg/m2 Obesity
-Daytime sleeping.
#Respiratory
-It's called Obesity hypoventilation syndrome.
-Sleep-related hypoventilation disorder
-BMI of ≥ 30 kg/m2 Obesity
-Daytime sleeping.
#Respiratory
GN's in which the COMPLEMENT is low:
1-Lupus nephritis
2-IE
3-Post-infectious GN
4-Cryoglobulinemia
5-HSP
6-MPGN.
Normal complement:
Anti-GBM
1-Good pasture syndrome
2-Anti-GBM renal disease.
#Renal
1-Lupus nephritis
2-IE
3-Post-infectious GN
4-Cryoglobulinemia
5-HSP
6-MPGN.
Normal complement:
Anti-GBM
1-Good pasture syndrome
2-Anti-GBM renal disease.
#Renal
•What are the reversible conditions in obesity?
-Hypothyroidism
-Cushing’s syndrome
-Insulinoma
-Hypothalamic disorder.
#Endocrine
-Hypothyroidism
-Cushing’s syndrome
-Insulinoma
-Hypothalamic disorder.
#Endocrine
•What are the syndrome in which obesity is a predominant feature?
-Cushing syndrome
-Laurence-Moon-Biedle syndrome
-Prader-Willi syndrome
-Pickwickian syndrome
-Alstrom’s syndrome
-PCOS.
#Endocrine
-Cushing syndrome
-Laurence-Moon-Biedle syndrome
-Prader-Willi syndrome
-Pickwickian syndrome
-Alstrom’s syndrome
-PCOS.
#Endocrine
•Alström syndrome (AS), also called Alström–Hallgren syndrome
-It is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction.
-Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.
-Hypergonadotrophic hypogonadism and hypothyroidism.
-Acanthosis nigricans resulting from hyperinsulinemia.
#Endocrine
-It is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction.
-Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy.
-Hypergonadotrophic hypogonadism and hypothyroidism.
-Acanthosis nigricans resulting from hyperinsulinemia.
#Endocrine
Remember:
-Weakness with preserved reflex: Myotonia dystrophica, also myasthenia.
-Weakness with loss of reflex: Neuropathy, also in case of myopathy, lower motor neuron lesion
-Weakness with exaggerated reflex: Upper motor neuron lesion (MND, typically in amyotrophic lateral sclerosis).
#Neurology
-Weakness with preserved reflex: Myotonia dystrophica, also myasthenia.
-Weakness with loss of reflex: Neuropathy, also in case of myopathy, lower motor neuron lesion
-Weakness with exaggerated reflex: Upper motor neuron lesion (MND, typically in amyotrophic lateral sclerosis).
#Neurology
-Weakness worsens with activity: Myasthenia gravis.
-Weakness improves with activity: Eaton Lambert syndrome.
-Weakness worsen on exposure to heat (e.g. hot bath): Multiple sclerosis. Sudden ascending paralysis occurs in GBS.
#Neurology
-Weakness improves with activity: Eaton Lambert syndrome.
-Weakness worsen on exposure to heat (e.g. hot bath): Multiple sclerosis. Sudden ascending paralysis occurs in GBS.
#Neurology