Monozygotic twins discordant for ROHHAD phenotype. 2011

Pallavi P Patwari, and Casey M Rand, and Elizabeth M Berry-Kravis, and Diego Ize-Ludlow, and Debra E Weese-Mayer
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Children's Memorial Hospital, 2300 Children's Plaza, Box 165, Chicago, IL 60614, USA. ppatwari@childrensmemorial.org.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) falls within a group of pediatric disorders with both respiratory control and autonomic nervous system dysregulation. Children with ROHHAD typically present after 1.5 years of age with rapid weight gain as the initial sign. Subsequently, they develop alveolar hypoventilation, autonomic nervous system dysregulation, and, if untreated, cardiorespiratory arrest. To our knowledge, this is the first report of discordant presentation of ROHHAD in monozygotic twins. Twin girls, born at term, had concordant growth and development until 8 years of age. From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker. Results of genetic testing for PHOX2B (congenital central hypoventilation syndrome disease-defining gene) mutations were negative. With early recognition and conservative management, the affected twin had excellent neurocognitive outcome that matched that of the unaffected twin. The unaffected twin demonstrated rapid weight gain later in age but not development of signs/symptoms consistent with ROHHAD. This discordant twin pair demonstrates key features of ROHHAD including the importance of early recognition (especially hypoventilation), complexity of signs/symptoms and clinical course, and importance of initiating comprehensive, multispecialty care. These cases confound the hypothesis of a monogenic etiology for ROHHAD and indicate alternative etiologies including autoimmune or epigenetic phenomenon or a combination of genetic predisposition and acquired precipitant.

UI MeSH Term Description Entries
D007027 Hypothalamic Diseases Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders. Froehlich's Syndrome,Hypothalamic-Neurohypophyseal Disorders,Pituitary Diencephalic Syndrome,Hypothalamic Dysfunction Syndromes,Hypothalamic Dysinhibition Syndrome,Hypothalamic Overactivity Syndrome,Hypothalamic Pseudopuberty,Hypothalamic-Adenohypophyseal Disorders,Diencephalic Syndrome, Pituitary,Diencephalic Syndromes, Pituitary,Disease, Hypothalamic,Diseases, Hypothalamic,Disorder, Hypothalamic-Adenohypophyseal,Disorder, Hypothalamic-Neurohypophyseal,Disorders, Hypothalamic-Adenohypophyseal,Disorders, Hypothalamic-Neurohypophyseal,Dysfunction Syndrome, Hypothalamic,Dysfunction Syndromes, Hypothalamic,Dysinhibition Syndrome, Hypothalamic,Dysinhibition Syndromes, Hypothalamic,Froehlich Syndrome,Froehlichs Syndrome,Hypothalamic Adenohypophyseal Disorders,Hypothalamic Disease,Hypothalamic Dysfunction Syndrome,Hypothalamic Dysinhibition Syndromes,Hypothalamic Neurohypophyseal Disorders,Hypothalamic Overactivity Syndromes,Hypothalamic Pseudopuberties,Hypothalamic-Adenohypophyseal Disorder,Hypothalamic-Neurohypophyseal Disorder,Overactivity Syndrome, Hypothalamic,Overactivity Syndromes, Hypothalamic,Pituitary Diencephalic Syndromes,Pseudopuberties, Hypothalamic,Pseudopuberty, Hypothalamic,Syndrome, Froehlich's,Syndrome, Hypothalamic Dysfunction,Syndrome, Hypothalamic Dysinhibition,Syndrome, Hypothalamic Overactivity,Syndromes, Hypothalamic Dysfunction,Syndromes, Hypothalamic Dysinhibition,Syndromes, Hypothalamic Overactivity,Syndromes, Pituitary Diencephalic
D007040 Hypoventilation A reduction in the amount of air entering the pulmonary alveoli. Hypoventilations
D009765 Obesity A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D004200 Diseases in Twins Disorders affecting TWINS, one or both, at any age. Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001342 Autonomic Nervous System Diseases Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems. Autonomic Disorders,Central Autonomic Nervous System Diseases,Disorders of the Autonomic Nervous System,Dysautonomia,Nervous System Diseases, Autonomic,Nervous System Diseases, Parasympathetic,Nervous System Diseases, Sympathetic,Non-Familial Dysautonomia,Parasympathetic Nervous System Diseases,Peripheral Autonomic Nervous System Diseases,Sympathetic Nervous System Diseases,ANS (Autonomic Nervous System) Diseases,ANS Diseases,Autonomic Central Nervous System Diseases,Autonomic Diseases,Autonomic Nervous System Disorders,Autonomic Peripheral Nervous System Diseases,Segmental Autonomic Dysfunction,ANS Disease,Autonomic Disease,Autonomic Disorder,Autonomic Dysfunction, Segmental,Autonomic Dysfunctions, Segmental,Disorder, Autonomic,Dysautonomia, Non-Familial,Dysautonomias,Non Familial Dysautonomia,Non-Familial Dysautonomias,Segmental Autonomic Dysfunctions
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D013997 Time Factors Elements of limited time intervals, contributing to particular results or situations. Time Series,Factor, Time,Time Factor

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