Seizures, and Abdominal distention

Diseases related with Seizures and Abdominal distention

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


Top matches:

Low match EPILEPSY, PYRIDOXINE-DEPENDENT; EPD


Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).

EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Is also known as pyridoxine dependency with seizures|pde|pyridoxine-dependent epilepsy|aasa dehydrogenase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Low match GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY


Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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Other less relevant matches:

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM


METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Low match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

Low match LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14


Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Top 5 symptoms//phenotypes associated to Seizures and Abdominal distention

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Abdominal distention. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Growth delay Spasticity Hypoglycemia Respiratory distress Hyperlipidemia Anemia Low-set ears Hepatomegaly Failure to thrive Short stature

Rare Symptoms - Less than 30% cases


Microcephaly Strabismus Apnea Hypoplasia of the corpus callosum Abnormal facial shape Hepatocellular carcinoma Respiratory insufficiency Cerebral atrophy Feeding difficulties Dystonia Thrombocytopenia Respiratory failure Hepatosplenomegaly Developmental regression Ophthalmoplegia Protuberant abdomen Peripheral neuropathy Abdominal pain Constipation Hearing impairment Optic atrophy Ventriculomegaly Elevated hepatic transaminase Myoclonus Hallucinations Generalized tonic-clonic seizures Prenatal movement abnormality Leukodystrophy Fetal distress Lactic acidosis Muscular hypotonia Hepatic fibrosis Decreased liver function Hypertension Urinary incontinence Splenomegaly Tachycardia Nausea Nephropathy Coma Decerebrate rigidity Intellectual disability, mild EMG: chronic denervation signs Cholecystitis Paresthesia Psychosis Cutaneous photosensitivity Anorexia Paraparesis Cranial nerve paralysis Hyponatremia Apathy Stage 5 chronic kidney disease Abnormality of glycosphingolipid metabolism Nausea and vomiting Weight loss Diarrhea Pain Abnormality of proteoglycan metabolism Renal insufficiency Depressivity Arrhythmia Hyperhidrosis Arthralgia Lethargy Myalgia Punctate periventricular T2 hyperintense foci Carcinoma Anxiety Behavioral abnormality Paralysis Abnormal social behavior Progressive psychomotor deterioration Agitation Cerebellar atrophy Insomnia Recurrent bacterial infections CNS hypomyelination Peripheral edema Recurrent infections Osteoporosis Proteinuria Delayed puberty Neutropenia Abnormal bleeding Nephrolithiasis Pancreatitis Progressive microcephaly Inflammation of the large intestine Focal segmental glomerulosclerosis Hyperuricemia Enlarged kidney Gout Xanthomatosis Xanthelasma Oral ulcer Decreased glomerular filtration rate Lipemia retinalis Tented upper lip vermilion Cerebral visual impairment Dysuria Red urine Ileus Urinary retention Diaphragmatic paralysis Abnormal urinary color Delirium Psychotic episodes Hypertensive crisis Respiratory paralysis Paralytic ileus Elevated urinary delta-aminolevulinic acid Acute episodes of neuropathic symptoms Hypsarrhythmia Micrognathia Anteverted nares Edema Blindness Vegetative state Absent speech Cerebellar hypoplasia Severe global developmental delay Full cheeks Sloping forehead Progressive peripheral neuropathy Progressive external ophthalmoplegia Short attention span Aspiration Clonus Muscle fibrillation Enterocolitis Hyperreflexia Dysphagia Rigidity Esotropia Progressive neurologic deterioration Oculomotor apraxia Brain atrophy Trismus Bulbar signs Recurrent aspiration pneumonia Hypertelorism Downslanted palpebral fissures Patent ductus arteriosus Hydronephrosis Feeding difficulties in infancy Smooth philtrum Postnatal microcephaly Metabolic acidosis Aganglionic megacolon Fatigue Delayed speech and language development Abnormality of metabolism/homeostasis Generalized myoclonic seizures Generalized-onset seizure Status epilepticus Neonatal respiratory distress Generalized tonic seizures Motor delay Cirrhosis Poor speech Hypertriglyceridemia Hypercholesterolemia Ketosis Recurrent hypoglycemia Fasting hypoglycemia Bile duct proliferation Portal fibrosis Hypoglycemic seizures Hypertonia Intestinal malrotation Pyloric stenosis Progressive gait ataxia Reduced visual acuity Mitochondrial myopathy Hypomagnesemia Slender build Gastrointestinal dysmotility Sensory ataxic neuropathy Dysarthria Hyporeflexia Babinski sign Bilateral sensorineural hearing impairment Malnutrition Intention tremor Clumsiness Frequent falls Decreased nerve conduction velocity Emotional lability Loss of speech Abnormality of visual evoked potentials Increased CSF protein Delusions Celiac disease Bilateral talipes equinovarus Intestinal obstruction Talipes equinovarus Spastic diplegia Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Ataxia Myopathy Hypokalemia Encephalopathy Abnormality of the cerebral white matter Malabsorption Unsteady gait Generalized muscle weakness External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Cachexia Doll-like facies



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Dysphagia, related diseases and genetic alterations Macrocephaly and Deeply set eye, related diseases and genetic alterations Tremor and Abnormality of eye movement, related diseases and genetic alterations Cardiomyopathy and Nephroblastoma, related diseases and genetic alterations Failure to thrive and Split hand, related diseases and genetic alterations Nystagmus and Hypoglycemia, related diseases and genetic alterations

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