Hepatomegaly, and Tetraparesis

Diseases related with Hepatomegaly and Tetraparesis

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Tetraparesis that can help you solving undiagnosed cases.

Top matches:

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Other less relevant matches:

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Hepatomegaly and Tetraparesis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spastic tetraparesis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Tetraparesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Tetraplegia

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Increased serum lactate Ataxia Hepatosplenomegaly Spastic tetraplegia Progressive neurologic deterioration Abnormal facial shape Hypertonia Visual impairment Dystonia Microcephaly Splenomegaly Abnormality of the cerebral white matter Developmental regression Elevated hepatic transaminase Feeding difficulties Coarse facial features Vomiting Lethargy Myoclonus Corneal opacity Thrombocytopenia Growth delay Coma Respiratory insufficiency Status epilepticus Hearing impairment Muscular hypotonia Intellectual disability, profound Macrocephaly Macroglossia Respiratory distress Cerebral cortical atrophy Hepatic steatosis Lactic acidosis Intellectual disability, severe Irritability Fever Acidosis Flexion contracture Absent speech Hyperammonemia

Rare Symptoms - Less than 30% cases

Muscle cramps Anemia Cerebral visual impairment Nystagmus Hypoglycemia Headache Behavioral abnormality Strabismus Choreoathetosis Generalized tonic-clonic seizures Hernia Optic atrophy Fatigue Jaundice Renal insufficiency Dysostosis multiplex Myelopathy Hydrocephalus Diarrhea Congestive heart failure Kyphosis Inguinal hernia Obstructive sleep apnea Cervical cord compression Umbilical hernia Apnea Retinopathy Abnormal heart valve morphology Dolichocephaly Sleep apnea Split hand Retinal fold Opacification of the corneal stroma Nausea and vomiting Waddling gait Metabolic acidosis Postural instability Aciduria Pancreatitis Ketonuria Organic aciduria Cataract Edema Decreased liver function Hypertrophic cardiomyopathy Abnormality of the liver Congenital cataract Depressed nasal bridge Gliosis Dermatan sulfate excretion in urine Pachygyria Scoliosis Exercise intolerance Cerebellar atrophy Neuronal loss in central nervous system Encephalopathy Respiratory tract infection Cerebral atrophy Muscular hypotonia of the trunk Skin rash Myopathy Tremor Hyperreflexia Cognitive impairment Gait ataxia Ragged-red muscle fibers Respiratory failure Ptosis Aseptic necrosis Hirsutism Cataplexy Personality disorder Flared iliac wings Broad ribs Glaucoma Hypothyroidism Disproportionate short-trunk short stature Hypoglycemic coma Ovoid vertebral bodies Joint stiffness Hypoplastic iliac wing Genu valgum Renal cortical cysts Spinal canal stenosis Limb tremor Impaired mastication Thoracic kyphosis Hip dysplasia Lumbar hyperlordosis Decreased body weight Hypoplasia of the odontoid process Aortic valve stenosis Accelerated skeletal maturation Nonketotic hypoglycemia Recurrent upper respiratory tract infections Epiphyseal dysplasia Metaphyseal widening Metaphyseal irregularity Thickened skin Polycystic kidney dysplasia Narcolepsy Hypersarcosinemia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Intellectual disability, progressive Aortic regurgitation Widely spaced teeth Corneal dystrophy Incoordination Mild short stature Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Scaphocephaly Papilledema Ethylmalonic aciduria Abnormality of the skeletal system Urinary glycosaminoglycan excretion Glutaric aciduria Short stature Retinoschisis Gastrointestinal inflammation Tracheobronchomalacia Arthralgia of the hip Heparan sulfate excretion in urine Reye syndrome-like episodes Intestinal pseudo-obstruction Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Reduced protein C activity Progressive spastic quadriplegia Prominent sternum Constrictive median neuropathy Heterotopia Ketosis Wide anterior fontanel Progressive proximal muscle weakness Anorexia Cardiorespiratory arrest Left ventricular hypertrophy Elbow flexion contracture Abnormality of the genital system Clonus Cardiomegaly Generalized muscle weakness Renal cyst Pulmonary hypoplasia Nausea Excessive daytime somnolence Chronic fatigue Leukodystrophy Cardiac arrest Hypoketotic hypoglycemia Rhabdomyolysis Hemiplegia Stridor Ventricular fibrillation Restrictive ventilatory defect Difficulty climbing stairs Glycosuria Slurred speech Easy fatigability Myoglobinuria Acute kidney injury Poor head control Fatigable weakness Mutism Drowsiness Scapular winging Type I diabetes mellitus Joint hyperflexibility Limb muscle weakness Back pain Acute pancreatitis Gait disturbance Dysarthria Motor delay Pain Muscle weakness Abnormal corpus callosum morphology Loss of ability to walk Respiratory arrest Depressivity Generalized aminoaciduria Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical instability Cervical myelopathy Oliguria Dysphagia Arrhythmia Dilated cardiomyopathy Myalgia Abnormality of the pinna Exercise-induced myalgia Hyperlordosis Medulloblastoma Proximal tubulopathy Telecanthus Episodic vomiting Proximal muscle weakness Areflexia Abnormality of the renal tubule Difficulty walking Arthralgia High forehead Dyspnea Weight loss Elevated serum creatine phosphokinase Renal dysplasia Low-set ears Hoarse voice Toe walking Chilblains Serositis Atopic dermatitis Basal ganglia calcification Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Vasculitis Midface retrusion Progressive microcephaly Lower limb spasticity Nephrotic syndrome Brain atrophy Lymphadenopathy Paraplegia Abnormality of eye movement Blindness Visual loss Alopecia Global brain atrophy Developmental stagnation at onset of seizures Hyporeflexia of upper limbs Multifocal epileptiform discharges Developmental stagnation Abnormal retinal morphology Lower limb hyperreflexia Hypermelanotic macule Loss of consciousness Mandibular prognathia Gingival overgrowth Generalized-onset seizure Inability to walk Abnormality of skin pigmentation Retinal degeneration Pallor Feeding difficulties in infancy Spastic paraplegia Intrauterine growth retardation Abnormality of the nervous system Leukoencephalopathy Hypertension Delayed speech and language development Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Dysplastic corpus callosum Decreased activity of mitochondrial complex I Macrovesicular hepatic steatosis Muscle stiffness Mental deterioration Cholestasis Bradykinesia Ophthalmoplegia Neonatal hypotonia Hypospadias Hypoplasia of the corpus callosum Cleft palate Hyperactivity Abnormal pyramidal sign Reduced intraabdominal adipose tissue Reduced subcutaneous adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Loss of speech Limb dystonia Brisk reflexes Cirrhosis Hyperinsulinemia Lipodystrophy Acanthosis nigricans Generalized hirsutism Insulin resistance Hypertriglyceridemia Sleep disturbance Reduced visual acuity Small for gestational age Abnormality of retinal pigmentation Long philtrum Sloping forehead Cerebral calcification Polymicrogyria Abnormality of movement Micropenis Cerebellar hypoplasia Microphthalmia Anteverted nares Microretrognathia Ventriculomegaly High palate Micrognathia Hypertelorism Metabolic ketoacidosis Chronic metabolic acidosis Cerebellar hemorrhage Postnatal microcephaly Purpura Tubulointerstitial abnormality Attention deficit hyperactivity disorder Recurrent otitis media Hypertrichosis Thick lower lip vermilion Pigmentary retinopathy Asthma Delayed eruption of teeth Neurodegeneration Osteopenia Lissencephaly Rod-cone dystrophy Severe short stature Pes cavus Short neck Congenital microcephaly Increased CSF protein Petechiae Abnormal globus pallidus morphology Methylmalonic acidemia Severe global developmental delay Polycythemia Elevated plasma branched chain amino acids Abnormal cardiac ventricular function Methemoglobinemia Hepatic encephalopathy Generalized tonic seizures Decreased plasma carnitine Hypercoagulability Exertional dyspnea Hyperisoleucinemia Neurodevelopmental delay Opisthotonus Athetosis Cerebral palsy Involuntary movements Cyanosis Hepatic failure Athetoid cerebral palsy Increased urine alpha-ketoglutarate concentration Hyperglycinemia Paraparesis Homocystinuria Methylmalonic aciduria Delayed CNS myelination Tubulointerstitial nephritis Macrocytic anemia Ischemic stroke Leukopenia Pancytopenia Immunodeficiency Dehydration Nephropathy Stage 5 chronic kidney disease Neurological speech impairment Stroke Abnormality of the kidney Diabetes mellitus Abnormality of blood glucose concentration


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