Hydrocephalus, and Lactic acidosis

Diseases related with Hydrocephalus and Lactic acidosis

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

Top matches:

Medium match OXOGLUTARIC ACIDURIA

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Other less relevant matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017).

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA Is also known as lipt2d|lipoyltransferase 2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA

Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hepatomegaly
  • Ventriculomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about USP18 DEFICIENCY

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Lactic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Spasticity Feeding difficulties Encephalopathy Microcephaly Hyperglycinemia Failure to thrive Hyperreflexia Thrombocytopenia Cerebral atrophy Respiratory insufficiency Motor delay Lethargy Delayed myelination Dystonia Optic atrophy Metabolic acidosis Ataxia

Rare Symptoms - Less than 30% cases

Growth delay Neonatal hypotonia Nonketotic hyperglycinemia Macrocephaly Vomiting Muscular hypotonia of the trunk Nystagmus Aciduria Elevated hepatic transaminase Pachygyria Aggressive behavior Short stature Intellectual disability Agenesis of corpus callosum Hypoglycemia Patent ductus arteriosus Visual loss Hepatomegaly Muscular hypotonia Hypertonia Cardiomyopathy Poor suck Spastic tetraparesis Leukodystrophy Tetraparesis Spastic tetraplegia Hepatosplenomegaly Severe global developmental delay Apnea Absent speech Myoclonus Skeletal muscle atrophy Edema EEG abnormality Cerebral cortical atrophy Hypokinesia Redundant neck skin Redundant skin Feeding difficulties in infancy Small for gestational age Tetany Brachydactyly Osteopetrosis Ophthalmoparesis Flared metaphysis Osteomyelitis Pathologic fracture Hyperparathyroidism Renal tubular acidosis Retinal atrophy Choanal stenosis Low-set ears Facial paralysis Progressive encephalopathy Extramedullary hematopoiesis Progressive macrocephaly Secondary hyperparathyroidism Sandwich appearance of vertebral bodies Abnormal facial shape Abnormality of the cerebral white matter Decreased liver function Increased serum pyruvate Tetraplegia Tremor Cerebellar atrophy Rod-cone dystrophy Rigidity Neurological speech impairment Dysmetria Multifocal seizures Amblyopia Visual impairment Exotropia Leukoencephalopathy Athetosis Diffuse cerebral atrophy Epileptic spasms Limb hypertonia Generalized amyotrophy Intrauterine growth retardation Delayed speech and language development Hyperalaninemia Heterotopia Renal cortical cysts Periventricular cysts Cerebellar hypoplasia Respiratory failure Polymicrogyria Ascites Cerebral calcification Brisk reflexes Coxa vara Bradycardia Aspiration Intracranial hemorrhage Cerebral hemorrhage Petechiae Dilation of lateral ventricles Muscle weakness Elevated alkaline phosphatase Delirium Hypocalcemia Hyporeflexia Methylmalonic acidemia Hypertension Hypoplasia of the corpus callosum Intellectual disability, severe Behavioral abnormality Intellectual disability, mild Hyperactivity Ketonuria Autism Abnormality of the nervous system Intellectual disability, moderate Irritability Autistic behavior Attention deficit hyperactivity disorder Methylmalonic aciduria Tachypnea Coma Hypertrophic cardiomyopathy Abnormality of movement Abnormal salivary gland morphology Congenital lactic acidosis Abnormal urine alpha-ketoglutarate concentration Abnormality of Krebs cycle metabolism Flexion contracture Respiratory tract infection Dehydration Sleep disturbance Profound global developmental delay Cerebral edema Decreased activity of the pyruvate dehydrogenase complex Diarrhea Gastroesophageal reflux Neutropenia Chorea Bone marrow hypocellularity Blindness Retinopathy Pigmentary retinopathy Progressive neurologic deterioration Hearing impairment Anemia Frontal bossing Splenomegaly Elevated serum creatine phosphokinase Facial palsy Carious teeth Decreased antibody level in blood Pancytopenia Aganglionic megacolon Increased bone mineral density Developmental regression Pill-rolling tremor Intellectual disability, profound Infantile spasms Hypsarrhythmia Choreoathetosis Limb ataxia Leukopenia Impulsivity Spastic diplegia Weak cry Recurrent singultus Restlessness Ketoacidosis Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Episodic ketoacidosis Mitochondrial encephalopathy


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